G11L (p.Gly11Leu) variant of GJB2 (Gap junction beta-2 protein)
G11L (p.Gly11Leu) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G11L (p.Gly11Leu) variant details
- p.Gly11Leu
- rs397516873
- gnomAD 13-20189513-GATCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available