T8T (p.Thr8Thr) variant of GJB6 (Gap junction beta-6 protein)
T8T (p.Thr8Thr) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- rs992236233
- gnomAD 13-20223457-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0811
- CADD 0.12
- Most common in the Amish population (allele frequency 0.0011)
- Literature evidence available