T8T (p.Thr8Thr) variant of GJB1 (Gap junction beta-1 protein)
T8T (p.Thr8Thr) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- gnomAD X-71223731-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 6.94
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available