H39N (p.His39Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
H39N (p.His39Asn) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H39N (p.His39Asn) variant details
- p.His39Asn
- rs138070585
- ClinGen CA7327542
- ClinVar RCV000671556
- ESP rs138070585
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.29
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-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)