C53F (p.Cys53Phe) variant of GJB6 (Gap junction beta-6 protein)
C53F (p.Cys53Phe) 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.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- gnomAD 13-20223323-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available