D3Y (p.Asp3Tyr) variant of GJA1 (Gap junction alpha-1 protein)
D3Y (p.Asp3Tyr) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- gnomAD 6-121446854-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.83
- MetaLR 0.98
- MetaSVM 1.07
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available