G45C (p.Gly45Cys) variant of GJB6 (Gap junction beta-6 protein)
G45C (p.Gly45Cys) 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.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- gnomAD 13-20223348-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available