D95E (p.Asp95Glu) variant of SERPINA1 (Alpha-1-antitrypsin)
D95E (p.Asp95Glu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D95E (p.Asp95Glu) variant details
- p.Asp95Glu
- cosmic curated COSV63345
- TOPMed rs199962756
- gnomAD rs199962756
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 12.60
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available