T8T (p.Thr8Thr) variant of GJB2 (Gap junction beta-2 protein)
T8T (p.Thr8Thr) in GJB2 (Gap junction beta-2 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, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- gnomAD 13-20189558-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0813
- CADD 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available