Q28R (p.Gln28Arg) variant of APOC2 (Apolipoprotein C-II)
Q28R (p.Gln28Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- rs1212588079
- ClinGen CA406292335
- ClinVar RCV003176548
- TOPMed rs1212588079
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.30
- CADD 12.60
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available