Y17Y (p.Tyr17Tyr) variant of GJA1 (Gap junction alpha-1 protein)
Y17Y (p.Tyr17Tyr) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Y17Y (p.Tyr17Tyr) variant details
- p.Tyr17Tyr
- gnomAD 6-121446898-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available