D43A (p.Asp43Ala) variant of SERPINA1 (Alpha-1-antitrypsin)
D43A (p.Asp43Ala) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D43A (p.Asp43Ala) variant details
- p.Asp43Ala
- Ensembl rs1897069375
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available