I100N (p.Ile100Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
I100N (p.Ile100Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I100N (p.Ile100Asn) variant details
- p.Ile100Asn
- rs1555369135
- ClinGen CA390850366
- ClinVar RCV000512627
- Ensembl rs1555369135
- Uncertain significance
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.80
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)