L10L (p.Leu10Leu) variant of GJB1 (Gap junction beta-1 protein)
L10L (p.Leu10Leu) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- rs183702021
- gnomAD X-71223737-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 10.60
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available