V38G (p.Val38Gly) variant of GJB6 (Gap junction beta-6 protein)
V38G (p.Val38Gly) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V38G (p.Val38Gly) variant details
- p.Val38Gly
- ExAC rs769308126
- TOPMed rs769308126
- gnomAD rs769308126
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available