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

From: 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

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