P393S (p.Pro393Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
P393S (p.Pro393Ser) 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 not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P393S (p.Pro393Ser) variant details
- p.Pro393Ser
- rs61761869
- ClinGen CA7327256
- ClinVar RCV000336993
- ClinVar RCV000443069
- Pathogenic/Likely pathogenic
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.82
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)