D26N (p.Asp26Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
D26N (p.Asp26Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- ExAC rs750766974
- TOPMed rs750766974
- gnomAD rs750766974
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 16.00
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available