Y66Y (p.Tyr66Tyr) variant of GJA1 (Gap junction alpha-1 protein)
Y66Y (p.Tyr66Tyr) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Y66Y (p.Tyr66Tyr) variant details
- p.Tyr66Tyr
- gnomAD 6-121447045-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.81
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available