H67Q (p.His67Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
H67Q (p.His67Gln) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H67Q (p.His67Gln) variant details
- p.His67Gln
- rs140744031
- ClinGen CA7327527
- ClinVar RCV002121094
- ESP rs140744031
- Likely benign
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.26
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Alpha-1-antitrypsin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)