G2G (p.Gly2Gly) variant of GJA1 (Gap junction alpha-1 protein)
G2G (p.Gly2Gly) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G2G (p.Gly2Gly) variant details
- p.Gly2Gly
- rs750778613
- gnomAD 6-121446853-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 11.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available