A59S (p.Ala59Ser) variant of APOC3 (Apolipoprotein C-III)
A59S (p.Ala59Ser) in APOC3 (Apolipoprotein C-III) 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 0.56 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- rs1941439349
- ClinGen CA382710168
- ClinVar RCV003177262
- TOPMed rs1941439349
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.61
- CADD 27.30
- PolyPhen-2 1.00
- 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