S17C (p.Ser17Cys) variant of GJB6 (Gap junction beta-6 protein)
S17C (p.Ser17Cys) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 13-20223431-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available