Table 4 of Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735.
Novel missense mutations | Polyphen-2 | SIFT | I Mutant 2 | Mutation Taster | ||
---|---|---|---|---|---|---|
Prediction | Score | Prediction | Score | Prediction (sign of DDG) | ||
p.G47S | Probably damaging | 1.000 | damaging | 0 | Decrease stability | disease causing |
p.P301L | Probably damaging | 1.000 | damaging | 0 | Decrease stability | disease causing |