G2R (p.Gly2Arg) variant of APOC2 (Apolipoprotein C-II)
G2R (p.Gly2Arg) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs1970346812
- ClinGen CA406291474
- ClinVar RCV002343058
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.25
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available