Y65* (p.Tyr65Ter) variant of GJB6 (Gap junction beta-6 protein)
Y65* (p.Tyr65Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
Y65* (p.Tyr65Ter) variant details
- p.Tyr65Ter
- gnomAD 13-20223286-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 26.30
- Population evidence available
- Literature evidence available