V5I (p.Val5Ile) variant of APOC3 (Apolipoprotein C-III)
V5I (p.Val5Ile) 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 0.23 / 1. The record also includes population frequency data and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs1233723737
- ClinGen CA382709542
- ClinVar RCV003177263
- gnomAD rs1233723737
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.23
- CADD 7.00
- PolyPhen-2 0.20
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available