F18V (p.Phe18Val) variant of APOC2 (Apolipoprotein C-II)
F18V (p.Phe18Val) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- rs1970347563
- ClinGen CA406292005
- ClinVar RCV002344589
- TOPMed rs1970347563
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.21
- MetaLR 0.35
- MetaSVM -0.91
- PolyPhen-2 0.06
- SIFT 0.50
- EVE 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available