D46H (p.Asp46His) variant of GJB6 (Gap junction beta-6 protein)
D46H (p.Asp46His) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D46H (p.Asp46His) variant details
- p.Asp46His
- gnomAD 13-20223345-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available