L36L (p.Leu36Leu) variant of GJB2 (Gap junction beta-2 protein)
L36L (p.Leu36Leu) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L36L (p.Leu36Leu) variant details
- p.Leu36Leu
- rs138547875
- gnomAD 13-20189474-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.081
- CADD 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available