L6L (p.Leu6Leu) variant of GJB1 (Gap junction beta-1 protein)
L6L (p.Leu6Leu) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD X-71223723-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.17
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available