G22G (p.Gly22Gly) variant of GJA1 (Gap junction alpha-1 protein)
G22G (p.Gly22Gly) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G22G (p.Gly22Gly) variant details
- p.Gly22Gly
- rs754592117
- gnomAD 6-121446913-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 11.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available