R160C (p.Arg160Cys) variant of APOE (Apolipoprotein E)
R160C (p.Arg160Cys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial type 3 hyperlipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R160C (p.Arg160Cys) variant details
- p.Arg160Cys
- rs387906567
- ClinGen CA041132
- ClinVar RCV000019438
- ClinVar RCV003227801
- Likely pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.83
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Pathogenic (in HLPP3)
- UniProt: Pathogenic (in HLPP3)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its… (PMID 1730728)
- Cited in: Disease variants in genomes of 44 centenarians. (PMID 25333069)