R176C (p.Arg176Cys) variant of APOE (Apolipoprotein E)
R176C (p.Arg176Cys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of atorvastatin response - Efficacy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R176C (p.Arg176Cys) variant details
- p.Arg176Cys
- rs7412
- ClinGen CA127498
- ClinVar RCV000019428
- ClinVar RCV000019439
- Pathogenic
- atorvastatin response - Efficacy
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.59
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Pathogenic (in HLPP3)
- UniProt: Pathogenic (in HLPP3)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. (PMID 11042151)
- Cited in: Domains of apoE required for binding to apoE receptor 2 and to phospholipids: implications for the functions of apoE in… (PMID 12950167)