T55A (p.Thr55Ala) variant of GJB6 (Gap junction beta-6 protein)
T55A (p.Thr55Ala) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- gnomAD 13-20223318-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available