P393R (p.Pro393Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
P393R (p.Pro393Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P393R (p.Pro393Arg) variant details
- p.Pro393Arg
- rs199422209
- ClinGen CA265860619
- ClinVar RCV001377892
- ESP rs199422209
- Pathogenic/Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.84
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)