S17F (p.Ser17Phe) variant of GJB6 (Gap junction beta-6 protein)
S17F (p.Ser17Phe) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- cosmic curated COSV10459
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available