V67I (p.Val67Ile) variant of APOC2 (Apolipoprotein C-II)
V67I (p.Val67Ile) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- rs778175608
- ClinGen CA9506621
- ClinVar RCV002417071
- ClinVar RCV003100994
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.26
- CADD 0.31
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available