D95N (p.Asp95Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
D95N (p.Asp95Asn) 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.
D95N (p.Asp95Asn) variant details
- p.Asp95Asn
- gnomAD rs1252210567
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.09
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available