R163C (p.Arg163Cys) variant of APOE (Apolipoprotein E)
R163C (p.Arg163Cys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial type 3 hyperlipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R163C (p.Arg163Cys) variant details
- p.Arg163Cys
- rs769455
- ClinGen CA127502
- ClinVar RCV000019432
- ClinVar RCV000019443
- Pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.69
- CADD 28.40
- PolyPhen-2 0.99
- 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 9.9e-07)
- Structural context available
- Cited in: Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. (PMID 11042151)
- Cited in: Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the… (PMID 1361196)