R154S (p.Arg154Ser) variant of APOE (Apolipoprotein E)
R154S (p.Arg154Ser) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as protective in the context of Familial hypercholesterolemia; Familial type 3 hyperlipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R154S (p.Arg154Ser) variant details
- p.Arg154Ser
- rs121918393
- ClinGen CA127501
- ClinVar RCV000019430
- ClinVar RCV000856604
- protective
- Familial hypercholesterolemia; Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.67
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: protective (Alzheimer disease 3, protection against, due to APOE3-Christchur)
- EBI: Pathogenic (in HLPP3)
- UniProt: Pathogenic (in HLPP3)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined… (PMID 22481068)
- Cited in: Site-specific mutagenesis of human apolipoprotein E. Receptor binding activity of variants with single amino acid… (PMID 2831187)