A82P (p.Ala82Pro) variant of SERPINA1 (Alpha-1-antitrypsin)
A82P (p.Ala82Pro) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A82P (p.Ala82Pro) variant details
- p.Ala82Pro
- rs113817720
- ClinGen CA390850482
- ClinVar RCV000768537
- ExAC rs113817720
- Pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.42
- PolyPhen-2 0.17
- SIFT 0.04
- EVE 0.34
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)
- Cited in: [American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of… (PMID 15685488)