E366Q (p.Glu366Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
E366Q (p.Glu366Gln) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E366Q (p.Glu366Gln) variant details
- p.Glu366Gln
- rs28929474
- ClinGen CA390847805
- ClinVar RCV001984018
- 1000Genomes rs28929474
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.64
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)