T8A (p.Thr8Ala) variant of GJB6 (Gap junction beta-6 protein)
T8A (p.Thr8Ala) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- cosmic curated COSV53833
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)