S19T (p.Ser19Thr) variant of GJB6 (Gap junction beta-6 protein)
S19T (p.Ser19Thr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- gnomAD 13-20223425-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.95
- MetaSVM 1.06
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9e-05)
- Literature evidence available