K164E (p.Lys164Glu) variant of APOE (Apolipoprotein E)
K164E (p.Lys164Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K164E (p.Lys164Glu) variant details
- p.Lys164Glu
- rs121918394
- ClinGen CA127506
- ClinVar RCV000019440
- UniProt VAR 000662
- Pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.76
- CADD 26.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Pathogenic (in HLPP3)
- UniProt: Pathogenic (in HLPP3)
- Population evidence available
- Structural context available
- Cited in: Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia. (PMID 1356443)
- Cited in: Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and… (PMID 7635945)