C60W (p.Cys60Trp) variant of GJB6 (Gap junction beta-6 protein)
C60W (p.Cys60Trp) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C60W (p.Cys60Trp) variant details
- p.Cys60Trp
- gnomAD 13-20223301-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available