T26I (p.Thr26Ile) variant of GJB6 (Gap junction beta-6 protein)
T26I (p.Thr26Ile) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- gnomAD 13-20223404-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- MetaLR 0.96
- MetaSVM 1.13
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available