L56R (p.Leu56Arg) variant of GJB2 (Gap junction beta-2 protein)
L56R (p.Leu56Arg) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L56R (p.Leu56Arg) variant details
- p.Leu56Arg
- rs80338942
- gnomAD 13-20189414-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available