H67N (p.His67Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
H67N (p.His67Asn) 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 0.37 / 1. The record also includes published literature and structural context.
H67N (p.His67Asn) variant details
- p.His67Asn
- rs864622050
- ClinGen CA350201
- cosmic curated COSV63345
- ClinVar RCV000206131
- Likely benign
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.07
- MetaLR 0.32
- MetaSVM -0.86
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.20
- ClinVar: Likely benign (Alpha-1-antitrypsin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- 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)