p.Val52 Cys53insSer variant of GJB6 (Gap junction beta-6 protein)
p.Val52 Cys53insSer in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val52 Cys53insSer variant details
- gnomAD 13-20223323-C-CAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available