T5S (p.Thr5Ser) variant of GJB6 (Gap junction beta-6 protein)
T5S (p.Thr5Ser) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 13-20223468-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.82
- MetaSVM 0.24
- CADD 5.00
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Literature evidence available