A8V (p.Ala8Val) variant of APOC2 (Apolipoprotein C-II)
A8V (p.Ala8Val) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- 1000Genomes rs544199287
- ExAC rs544199287
- TOPMed rs544199287
- gnomAD rs544199287
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.16
- CADD 10.60
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available