V40L (p.Val40Leu) variant of APOC2 (Apolipoprotein C-II)
V40L (p.Val40Leu) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- 1000Genomes rs368487465
- ESP rs368487465
- ExAC rs368487465
- TOPMed rs368487465
- Uncertain significance
- Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.48
- CADD 0.05
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (Familial apolipoprotein C-II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available