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.