Blood Research

Pathogenicity predictions of the p.E66D mutation.

Mutation PROVEANa) SNAP2b) PolyPhen2c) PHD-SNPd) SNP&GOe) PANTHER
E66D Deleterious
Score: -2.540
Effect
Score: 37
Probably damaging
Score: 0.999
Disease
Score: 4
Disease
Probability: 0.705
Probably damaging

a)PROVEAN: “Deleterious” if the prediction score was ≤2.5, “Neutral” if the prediction score was ≥2.5. b)NAP2: “Neutral” if the score ranged from 0 to -100. “Effect” if the score was between 0 and 100. c)PolyPhen2: “Probably damaging” is the most disease-causing ability, with a score near 1. “Possibly damaging” signifies less disease-causing ability with a score of 0.5–0.8. “Benign”, which does not alter protein function, with a score closer to 0. d)PHD-SNP: if the probability is >0.5, mutation is predicted as “Disease” and if less than <0.5, mutation is predicted to be “Neutral”. e)SNP & GO: Probability of >0.5 is predicted to be a disease-causing nsSNP.

Blood Res 2021;56:252~258 https://doi.org/10.5045/br.2021.2021016
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