A51V (p.Ala51Val) variant of APOC2 (Apolipoprotein C-II)
A51V (p.Ala51Val) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- ExAC rs767857359
- gnomAD rs767857359
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.75
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available