G12G (p.Gly12Gly) variant of GJB2 (Gap junction beta-2 protein)
G12G (p.Gly12Gly) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- gnomAD 13-20189546-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available