Table 3.

Bioinformatical prediction data

Tool	Score	Prediction
Polyphen-2	1.00	Damaging
PROVEAN	− 3.969	Deleterious
Mutation taster	–	Disease-causing
Mutation assessor	4.965	HIGH
MUTPRED2	0.882	–
SIFT	0.001	Damaging
PMUT	94%	Disease
CADD	17.33	Likely benign
M-CAP	0.458	Possibly pathogenic
REVEL	0.5	Likely disease-causing