G12G (p.Gly12Gly) variant of GJB1 (Gap junction beta-1 protein)
G12G (p.Gly12Gly) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- rs756086307
- gnomAD X-71223743-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available