Table 1: Results of in silico mutation prediction analysis.
Prediction | Score | |
Provean a | Deleterious | -4.33 |
SIFT b | Damaging | 0.001 |
Mutation Taster c | Disease causing | 0.999 |
PolyPhen2 d | Benign (HumDiv- model) | 0.007 |
PolyPhen2 d | Benign (HumVar- model) | 0.047 |
a) http://provean.jcvi.org/index.php ; score threshold is -2.5 for binary classification.
b) http://sift.jcvi.org/www/SIFT_chr_coords_submit.html threshold < 0.05.
c) http://www.mutationtaster.org; Scores range from 0.0 to 1.0.
d) http://genetics.bwh.harvard.edu/pph2; deleterious threshold > 0.5.