Q64K (p.Gln64Lys) variant of SERPINA1 (Alpha-1-antitrypsin)
Q64K (p.Gln64Lys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant 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.
Q64K (p.Gln64Lys) variant details
- p.Gln64Lys
- rs1555369198
- ClinVar RCV000508836
- TOPMed rs1555369198
- no classification for the single variant
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.26
- CADD 3.94
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)