E21K (p.Glu21Lys) variant of APOE (Apolipoprotein E)
E21K (p.Glu21Lys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs121918392
- ClinGen CA127499
- ClinVar RCV000019429
- UniProt VAR 000645
- Pathogenic
- HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.56
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Pathogenic (HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED W)
- EBI: Pathogenic (in ApoE5)
- UniProt: Pathogenic (in ApoE5)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Site-directed mutagenesis of an apolipoprotein E mutant, apo E5(Glu3----Lys) and its binding to low density lipoprotein… (PMID 1530612)
- Cited in: Molecular cloning of a human apolipoprotein E variant: E5 (Glu3----Lys3). (PMID 2760009)