G60G (p.Gly60Gly) variant of GJA1 (Gap junction alpha-1 protein)
G60G (p.Gly60Gly) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G60G (p.Gly60Gly) variant details
- p.Gly60Gly
- gnomAD 6-121447027-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available