Q597R (p.Gln597Arg) variant of ABCA1 (O95477)
Q597R (p.Gln597Arg) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q597R (p.Gln597Arg) variant details
- p.Gln597Arg
- rs2853578
- ClinGen CA120478
- ClinVar RCV000010093
- UniProt VAR 009148
- Pathogenic
- Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tangier disease)
- EBI: Pathogenic (in TGD)
- UniProt: Pathogenic (in TGD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (PMID 10431236)
- Cited in: Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. (PMID 11086027)