E31K (p.Glu31Lys) variant of APOE (Apolipoprotein E)
E31K (p.Glu31Lys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs201672011
- ClinGen CA041327
- ClinVar RCV000019443
- ClinVar RCV000019453
- Pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Pathogenic (in HLPP3)
- UniProt: Pathogenic (in HLPP3)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the… (PMID 1361196)
- Cited in: Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the… (PMID 1674745)