V79E (p.Val79Glu) variant of SERPINA1 (Alpha-1-antitrypsin)
V79E (p.Val79Glu) 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 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.
V79E (p.Val79Glu) variant details
- p.Val79Glu
- rs864622047
- ClinGen CA349078
- ClinVar RCV000204890
- gnomAD rs864622047
- Uncertain significance
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.76
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)