T55R (p.Thr55Arg) variant of GJB6 (Gap junction beta-6 protein)
T55R (p.Thr55Arg) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
T55R (p.Thr55Arg) variant details
- p.Thr55Arg
- gnomAD 13-20223318-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 28.00
- Population evidence available
- Literature evidence available