P26H (p.Pro26His) variant of APOC2 (Apolipoprotein C-II)
P26H (p.Pro26His) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
P26H (p.Pro26His) variant details
- p.Pro26His
- TOPMed rs1238211981
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.22
- CADD 15.60
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available