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. Author manuscript; available in PMC: 2021 Nov 23.
Published in final edited form as: Mol Genet Metab. 2019 Sep 12;128(4):463–469. doi: 10.1016/j.ymgme.2019.09.002

Table 2.

Bioinformatic predictors of pathogenicity for variants reported to cause PKAN
MISSENSE
Mean Std.Dev
SIFT 0.05 0.08
PolyPhen2 0.94 0.15
PhyloP 0.53 0.10
GERP 4.69 0.56