L6L (p.Leu6Leu) variant of GJB2 (Gap junction beta-2 protein)
L6L (p.Leu6Leu) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 13-20189564-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0836
- CADD 0.41
- Population evidence available
- Structural context available
- Literature evidence available