Q57Q (p.Gln57Gln) variant of GJA1 (Gap junction alpha-1 protein)
Q57Q (p.Gln57Gln) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q57Q (p.Gln57Gln) variant details
- p.Gln57Gln
- rs776662901
- gnomAD 6-121447018-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0922
- CADD 1.63
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available