V84L (p.Val84Leu) variant of APOB (Apolipoprotein B-100)
V84L (p.Val84Leu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- rs1288338249
- ClinGen CA345964378
- ClinVar RCV004417738
- TOPMed rs1288338249
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- MetaLR 0.29
- MetaSVM -0.43
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available