D201G (p.Asp201Gly) variant of SERPINA1 (Alpha-1-antitrypsin)
D201G (p.Asp201Gly) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
D201G (p.Asp201Gly) variant details
- p.Asp201Gly
- rs1555368976
- ClinVar RCV000508742
- Ensembl rs1555368976
- no classification for the single variant
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.13
- MetaLR 0.54
- MetaSVM -0.30
- PolyPhen-2 0.05
- SIFT 0.04
- EVE 0.49
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)