Q25K (p.Gln25Lys) variant of APOC2 (Apolipoprotein C-II)
Q25K (p.Gln25Lys) 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 0.10 / 1. The record also includes population frequency data and structural context.
Q25K (p.Gln25Lys) variant details
- p.Gln25Lys
- rs144145394
- ClinGen CA308875710
- ClinVar RCV002380510
- ESP rs144145394
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.12
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available