S17S (p.Ser17Ser) variant of GJB6 (Gap junction beta-6 protein)
S17S (p.Ser17Ser) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs1869364239
- gnomAD 13-20223430-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 10.10
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Literature evidence available