F31V (p.Phe31Val) variant of APOC3 (Apolipoprotein C-III)
F31V (p.Phe31Val) in APOC3 (Apolipoprotein C-III) 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 0.13 / 1. The record also includes population frequency data and structural context.
F31V (p.Phe31Val) variant details
- p.Phe31Val
- rs1025708722
- ClinGen CA229318483
- ClinVar RCV003333843
- ClinVar RCV005467945
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.16
- CADD 2.99
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available