A43S (p.Ala43Ser) variant of APOC3 (Apolipoprotein C-III)
A43S (p.Ala43Ser) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- 1000Genomes rs147210663
- ESP rs147210663
- ExAC rs147210663
- TOPMed rs147210663
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.45
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available