R4G (p.Arg4Gly) variant of APOC2 (Apolipoprotein C-II)
R4G (p.Arg4Gly) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs202190413
- ClinGen CA9506566
- ClinVar RCV002430832
- ClinVar RCV003108107
- Uncertain significance
- not provided; Cardiovascular phenotype; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.40
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Familial apolipoprotein)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available