S38F (p.Ser38Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
S38F (p.Ser38Phe) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- rs745463238
- ClinGen CA7327543
- ClinVar RCV001815769
- ClinVar RCV002482346
- Uncertain significance
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.33
- CADD 17.90
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)