I74N (p.Ile74Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
I74N (p.Ile74Asn) 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 SERPINA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I74N (p.Ile74Asn) variant details
- p.Ile74Asn
- rs1275309068
- ClinGen CA390850531
- ClinVar RCV003402971
- gnomAD rs1275309068
- Likely pathogenic
- SERPINA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.87
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (SERPINA1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available