A43T (p.Ala43Thr) variant of APOC3 (Apolipoprotein C-III)
A43T (p.Ala43Thr) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs147210663
- ClinGen CA163266
- cosmic curated COSV52637
- ClinVar RCV000128450
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.65
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.048)
- Structural context available
- Cited in: Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (PMID 24941081)
- Cited in: Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. (PMID 24941082)