V20I (p.Val20Ile) variant of APOC2 (Apolipoprotein C-II)
V20I (p.Val20Ile) 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 Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- ESP rs201709243
- ExAC rs201709243
- TOPMed rs201709243
- gnomAD rs201709243
- Uncertain significance
- Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.38
- CADD 17.90
- PolyPhen-2 0.35
- SIFT 0.19
- ClinVar: Uncertain significance (Familial apolipoprotein C-II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available