T26T (p.Thr26Thr) variant of GJB2 (Gap junction beta-2 protein)
T26T (p.Thr26Thr) 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.
T26T (p.Thr26Thr) variant details
- p.Thr26Thr
- rs201848820
- gnomAD 13-20189504-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.41
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Literature evidence available