G216C (p.Gly216Cys) variant of SERPINA1 (Alpha-1-antitrypsin)
G216C (p.Gly216Cys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G216C (p.Gly216Cys) variant details
- p.Gly216Cys
- rs756773408
- ClinGen CA7327456
- ClinVar RCV000512625
- ExAC rs756773408
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.90
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)