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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: Hum Mutat. 2021 Jun 24;42(8):903–946. doi: 10.1002/humu.24238

Table 3.

gnomAD allele counts and frequency for different categories of myocilin (Refseq NM_000261.2) variants

Position Additional variant Allele Count Allele Frequency Polyphen Prediction1 Sift prediction1
Benign
p.Thr293Lys 157 5.60e-04 Benign Tolerated
p.Thr293Ala 1 4.02e-6 Benign Tolerated
p.Thr293Met 3 1.21e-5 Probably_damaging Deleterious
p.Val329Met 72 2.55e-04 Possibly_damaging Tolerated
p.Glu352Lys 337 1.19e-03 Probably_damaging Deleterious
p.Thr353Ile 191 6.75e-04 Benign Deleterious
p.Lys398Arg 992 3.51e-03 Benign Tolerated
p.Ala445Val 57 2.01e-04 Benign Deleterious
p.Lys500Arg 161 5.69e-04 Benign Tolerated
p.Lys500Thr 1 3.98e-6 Benign Tolerated
Pathogenic
p.Gly252Arg N/A N/A
p.Gly252Glu 2 8.25e-06 Probably damaging Deleterious
p.Gly252Ala 3 1.15e-05 Probably damaging Deleterious
p.Arg272Gly N/A N/A
p.Arg272Gln 2 8.01e-06 Benign Tolerated
p.Arg272* 2 8.02e-06 High confidence loss of function
p.Glu323Lys N/A N/A
p.Glu323_Val 329dup 1 3.98e-06
p.Gly364Val N/A N/A
p.Gy364Ser 2 7.95e-06 Probably damaging Tolerated
p.Pro370Leu N/A N/A
p.Pro370Ser 1 3.19e-05 Probably damaging Deleterious
p.Thr377Met 5 1.99e-05 Probably_damaging Deleterious
p.Thr377Ala 2 7.96e-6 Probably_damaging Deleterious
p.Pro481Thr N/A N/A
p.Pro481Ser 1 3.98e-06 Possibly damaging Tolerated
Likely Pathogenic
p.Val251Ala N/A N/A
p.Val251Ile 1 4.14e-06 Possibly damaging Tolerated
p.Leu255Pro N/A N/A
p.Leu255Val 3 1.23e-05 Benign Tolerated
p.Pro274Arg N/A N/A
p.Pro274Leu 1 4e-06 Probably damaging Deleterious
p.Thr438Ile N/A N/A
p.Thr438Pro 6 2.39e-05 Probably damaging Deleterious
p.Asn450Tyr N/A N/A
p.Asn450Ser 2 7.95e-06 Probably damaging Deleterious
Uncertain Significance—Lean Pathogenic
p.Gly244Val 6 2.51e-05 Probably_damaging Deleterious
p.Gly244Arg 2 7.95e-6 Possibly_damaging Deleterious
p.Thr285Met 7 2.80e-05 Probably_damaging Deleterious
p.Thr285Pro 1 4e-6 Probably_damaging Deleterious
p.Trp286Arg 2 8.01e-06 Probably_damaging Deleterious
p.Gly300Lys 10 3.58e-05 Possibly_damaging Tolerated
p.Gly326Ser 1 3.98e-06 Probably_damaging Deleterious
p.Leu334Pro 3 1.19e-05 Probably_damaging Deleterious
p.Leu334Val 1 3.98e-6 Probably_damaging Deleterious
p.Ile360Asn N/A N/A
p.Ile360Leu 1 3.98e-06 Benign Tolerated
p.Gly387Asp 3 1.19e-05 Possibly_damaging Deleterious
p.Asp395_Glu396insAspPro N/A N/A
p.Asp395Glu 5 1.99e-05 Benign Tolerated
p.Asp395Asn 3 1.19e-05 Benign Tolerated
p.Gly399Asp N/A N/A
p.Gly399Val 4 1.59e-5 Probably_damaging Deleterious
p.Ser425Pro N/A N/A
p.Ser425* 1 3.98e-06 High confidence loss of function
p.Phe430Leu N/A N/A
p.Phe430Ser 1 3.98e-06 Probably damaging Deleterious
p.Arg470Cys 6 3.31e-05 Benign Tolerated
p.Arg470His 3 1.19e-5 Benign Tolerated
p.Arg470Leu 1 3.19e-5 Benign Deleterious
Uncertain Significance—Lean Benign
p.Thr256Met 23 8.36e-05 Possibly_damaging Tolerated
p.Thr256Ala 1 4.11e-6 Benign Tolerated
p.Thr256Arg 3 1.23e-05 Probably damaging Deleterious
p.Arg296Cys 4 1.61e-5 Probably_damaging Deleterious
p.Arg296His 17 6.1e-5 Possibly_damaging Deleterious
p.Arg296Leu 1 4.04e-6 Possibly_damaging Deleterious
p.Gln297His N/A N/A
p.Gln297Arg 1 4.03e-06 Benign Tolerated
p.Leu303Ile 17 6.08e-05 Benign Tolerated
p.Leu303Phe 4 1.43e-5 Benign Tolerated
p.Ser313Phe 17 6.05e-05 Probably_damaging Tolerated
p.Ser313Cys 2 7.11e-6 Probably_damaging Deleterious
p.Ser331Thr N/A N/A
p.Ser331Leu 12 4.24e-05 Benign Tolerated
p.Ser333Cys N/A N/A
p.Ser333Asn 5 1.99e-05 Possibly damaging Deleterious
p.Arg342Lys N/A N/A
p.Arg342Gly 3 1.19e-05 Benign Deleterious
p.Ile345Met N/A N/A
p.Ile345Thr 1 3.98e-06 Benign Tolerated
p.Thr419Ala 1 3.98e-06 Probably_damaging Deleterious
p.Arg422Cys 8 3.18e-5 Probably_damaging Deleterious
p.Arg422His 8 3.18e-5 Benign Tolerated
p.Ala427Thr 12 4.77e-05 Probably_damaging Deleterious
p.Gly434Ser 1 3.98e-06 Possibly_damaging Deleterious
p.Asp446Tyr 8 2.83e-05 Possibly_damaging Deleterious
p.Asp446His 1 3.98e-6 Benign Tolerated
p.Ala447Thr N/A N/A
p.Ala447Val 2 7.95e-06 Possibly_damaging Deleterious
p.Tyr471Cys 7 2.78e-05 Probably_damaging Deleterious
p.Met476Arg 3 1.19e-05 Probably_damaging Deleterious
p.Met476Leu 1 3.98e-6 Possibly_damaging Deleterious
Uncertain Significance—Premature termination
p.Gln337Argfs*9 N/A N/A
p.Gln337His 1 3.98e-6 Probably_damaging Deleterious
p.Gln368* 314 1.11e-03 High confidence loss of function
Tyr453Metsf*11 20 7.07e-5 High confidence loss of function