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.