G45G (p.Gly45Gly) variant of GJB2 (Gap junction beta-2 protein)
G45G (p.Gly45Gly) 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.
G45G (p.Gly45Gly) variant details
- p.Gly45Gly
- rs777528049
- gnomAD 13-20189447-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.02
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Literature evidence available