Y92Y (p.Tyr92Tyr) variant of GJA1 (Gap junction alpha-1 protein)
Y92Y (p.Tyr92Tyr) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Y92Y (p.Tyr92Tyr) variant details
- p.Tyr92Tyr
- rs759231549
- gnomAD 6-121447123-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 8.50
- Population evidence available
- Structural context available
- Literature evidence available