G21G (p.Gly21Gly) variant of GJB1 (Gap junction beta-1 protein)
G21G (p.Gly21Gly) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G21G (p.Gly21Gly) variant details
- p.Gly21Gly
- gnomAD X-71223770-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 6.88
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available