T26A (p.Thr26Ala) variant of GJB2 (Gap junction beta-2 protein)
T26A (p.Thr26Ala) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- Ensembl rs2137308763
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.60
- MetaLR 0.92
- MetaSVM 0.91
- CADD 21.60
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available