W3* (p.Trp3Ter) variant of GJB6 (Gap junction beta-6 protein)
W3* (p.Trp3Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
W3* (p.Trp3Ter) variant details
- p.Trp3Ter
- gnomAD 13-20223472-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- Population evidence available
- Literature evidence available