D26Y (p.Asp26Tyr) variant of SERPINA1 (Alpha-1-antitrypsin)
D26Y (p.Asp26Tyr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D26Y (p.Asp26Tyr) variant details
- p.Asp26Tyr
- ExAC rs750766974
- TOPMed rs750766974
- gnomAD rs750766974
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.32
- CADD 21.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available