A13V (p.Ala13Val) variant of APOC3 (Apolipoprotein C-III)
A13V (p.Ala13Val) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- cosmic curated COSV57138
- ExAC rs772815802
- TOPMed rs772815802
- gnomAD rs772815802
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.06
- CADD 5.45
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available