D43E (p.Asp43Glu) variant of SERPINA1 (Alpha-1-antitrypsin)
D43E (p.Asp43Glu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- ExAC rs752646694
- gnomAD rs752646694
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.26
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available