L10L (p.Leu10Leu) variant of GJB2 (Gap junction beta-2 protein)
L10L (p.Leu10Leu) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- rs1215210213
- gnomAD 13-20189552-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0978
- CADD 2.42
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available