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. 2022 Nov 30;10:e14132. doi: 10.7717/peerj.14132

Table 2. The 19 high-risk missense variants of the CYP1B1 gene that were predicted to be “damaging” or “deleterious” by all the seven pieces of software.

rs IDs Variant SIFT PolyPhen 2 PROVEAN PANTHER SNAP2 Phd SNP Predict SNP
Score Prediction Score Prediction Score Prediction Score Prediction Score Prediction Prediction Score Prediction
rs201824781 P52L 0 Deleterious 1 Probably Damaging −6.33 Deleterious 0.85 Probably Damaging 58 effect Disease 0.86908 Deleterious
rs28936700 G61E 0 Deleterious 1 Probably Damaging −6.60 Deleterious 0.85 Probably Damaging 90 effect Disease 0.86908 Deleterious
rs112014184 G90R 0 Deleterious 1 Probably Damaging −6.94 Deleterious 0.85 Probably Damaging 91 effect Disease 0.86908 Deleterious
rs73625096 P118L 0 Deleterious 1 Probably Damaging −8.41 Deleterious 0.85 Probably Damaging 73 effect Disease 0.86908 Deleterious
rs72481807 E173K 0 Deleterious 1 Probably Damaging −3.25 Deleterious 0.78 Probably Damaging 84 effect Disease 0.86908 Deleterious
rs72480439 D291G 0.015 Deleterious 0.985 Probably Damaging −6.30 Deleterious 0.85 Probably Damaging 84 effect Disease 0.86908 Deleterious
rs200182794 Y349D 0.022 Deleterious 0.917 Probably Damaging −6.45 Deleterious 0.74 Probably Damaging 38 effect Disease 0.86908 Deleterious
rs55771538 G365R 0.003 Deleterious 0.991 Probably Damaging −6.24 Deleterious 0.85 Probably Damaging 72 effect Disease 0.86908 Deleterious
rs55771538 G365W 0 Deleterious 0.998 Probably Damaging −6.34 Deleterious 0.85 Probably Damaging 75 effect Disease 0.86908 Deleterious
rs72480442 R368C 0 Deleterious 0.996 Probably Damaging −7.34 Deleterious 0.85 Probably Damaging 92 effect Disease 0.60548 Deleterious
rs79204362 R368H 0.01 Deleterious 0.978 Probably Damaging −4.59 Deleterious 0.85 Probably Damaging 90 effect Disease 0.86908 Deleterious
rs104893622 D374N 0.006 Deleterious 0.981 Probably Damaging −4.74 Deleterious 0.85 Probably Damaging 59 effect Disease 0.71871 Deleterious
rs104893629 N423Y 0.001 Deleterious 1 Probably Damaging −7.62 Deleterious 0.85 Probably Damaging 89 effect Disease 0.86908 Deleterious
rs201181935 D430E 0.002 Deleterious 0.922 Probably Damaging −3.57 Deleterious 0.85 Probably Damaging 59 effect Disease 0.86908 Deleterious
rs72481808 P442A 0.022 Deleterious 1 Probably Damaging −7.53 Deleterious 0.85 Probably Damaging 34 effect Disease 0.86908 Deleterious
rs72549376 R444Q 0.003 Deleterious 1 Probably Damaging −3.77 Deleterious 0.85 Probably Damaging 69 effect Disease 0.86908 Deleterious
rs148233007 F445L 0 Deleterious 1 Probably Damaging −5.66 Deleterious 0.85 Probably Damaging 93 effect Disease 0.86908 Deleterious
rs28936701 R469W 0 Deleterious 1 Probably Damaging −7.28 Deleterious 0.74 Probably Damaging 98 effect Disease 0.60697 Deleterious
rs104894979 C470Y 0 Deleterious 1 Probably Damaging −10.10 Deleterious 0.85 Probably Damaging 89 effect Disease 0.86908 Deleterious