G11G (p.Gly11Gly) variant of GJB2 (Gap junction beta-2 protein)
G11G (p.Gly11Gly) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G11G (p.Gly11Gly) variant details
- p.Gly11Gly
- rs753943758
- gnomAD 13-20189549-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0942
- CADD 1.92
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available