A82T (p.Ala82Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
A82T (p.Ala82Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- rs113817720
- ClinGen CA7327522
- cosmic curated COSV63345
- ClinVar RCV000728194
- Conflicting interpretations
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.27
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.42
- CADD 18.30
- PolyPhen-2 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- 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)