G4R (p.Gly4Arg) variant of GJB6 (Gap junction beta-6 protein)
G4R (p.Gly4Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 13-20223471-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.90
- MetaSVM 0.88
- CADD 21.90
- PolyPhen-2 0.50
- SIFT 0.02
- Population evidence available
- Literature evidence available