S80N (p.Ser80Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
S80N (p.Ser80Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- ExAC rs777478364
- gnomAD rs777478364
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.63
- CADD 25.40
- PolyPhen-2 0.63
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available