P393T (p.Pro393Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
P393T (p.Pro393Thr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P393T (p.Pro393Thr) variant details
- p.Pro393Thr
- rs61761869
- ClinGen CA350451
- ClinVar RCV000206411
- ClinVar RCV000729874
- Conflicting interpretations
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.85
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)