K78E (p.Lys78Glu) variant of APOC3 (Apolipoprotein C-III)
K78E (p.Lys78Glu) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Apolipoprotein c-III deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K78E (p.Lys78Glu) variant details
- p.Lys78Glu
- rs121918382
- ClinGen CA127530
- ClinVar RCV000019492
- UniProt VAR 000643
- Pathogenic
- Apolipoprotein c-III deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.58
- CADD 17.40
- PolyPhen-2 0.32
- SIFT 0.05
- ClinVar: Pathogenic (Apolipoprotein c-III deficiency)
- EBI: Pathogenic (in HALP2)
- UniProt: Pathogenic (in HALP2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with… (PMID 2022742)