P52L (p.Pro52Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P52L (p.Pro52Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs944607375
- ClinGen CA265864194
- ClinVar RCV003472653
- TOPMed rs944607375
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.39
- CADD 17.20
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)