H7R (p.His7Arg) variant of GJB6 (Gap junction beta-6 protein)
H7R (p.His7Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
H7R (p.His7Arg) variant details
- p.His7Arg
- ExAC rs748719517
- gnomAD rs748719517
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 16.20
- PolyPhen-2 0.22
- SIFT 0.64
- Most common in the South Asian population (allele frequency 1.2e-05)