E24K (p.Glu24Lys) variant of APOC3 (Apolipoprotein C-III)
E24K (p.Glu24Lys) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs963060587
- ClinGen CA229318471
- ClinVar RCV002367356
- ClinVar RCV005058491
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available