Table 2 Pathogenicity assessment in silico of WFS1 c.2421C>G (p.Ser807Arg).
From: Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
Tools | Pathogenicity | Functional prediction scores/conservation scores |
|---|---|---|
REVEL | Deleterious | 0.839 |
SIFT | Damaging | 0.012 |
PloyPhen | Possibly_damaging | 0.89 |
MutationTaster | Disease causing | 1 |
GERP | Conserved | 5.59 |
