L36L (p.Leu36Leu) variant of GJB1 (Gap junction beta-1 protein)
L36L (p.Leu36Leu) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L36L (p.Leu36Leu) variant details
- p.Leu36Leu
- rs149350998
- gnomAD X-71223815-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 10.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available