L56L (p.Leu56Leu) variant of GJB6 (Gap junction beta-6 protein)
L56L (p.Leu56Leu) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 13-20223313-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 8.95
- Population evidence available
- Literature evidence available