A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

Table 2 Pathogenicity Assessment in Silico of KCNQ4 c.887G > A (p.G296D)

Tools	Pathogenicity	Functional Prediction Scores/Conservation scores
PROVEAN	Deleterious	−6.558
SIFT	Damaging	0
PolyPhen	Probably damaging	1
Mutation Taster	Disease causing	1
MutationAssessor		4.39

ISSN: 1471-2350