I111M (p.Ile111Met) variant of SERPINA1 (Alpha-1-antitrypsin)
I111M (p.Ile111Met) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I111M (p.Ile111Met) variant details
- p.Ile111Met
- rs886050923
- ClinGen CA10641355
- ClinVar RCV000356425
- TOPMed rs886050923
- Uncertain significance
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.27
- CADD 0.21
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)