A66P (p.Ala66Pro) variant of APOC2 (Apolipoprotein C-II)
A66P (p.Ala66Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
A66P (p.Ala66Pro) variant details
- p.Ala66Pro
- rs770092327
- ClinGen CA406294671
- ClinVar RCV004417826
- ClinVar RCV005023527
- Uncertain significance
- Familial apolipoprotein C-II deficiency; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.86
- PolyPhen-2 0.02
- SIFT 0.96
- EVE 0.08
- ClinVar: Uncertain significance (Familial apolipoprotein C-II deficiency; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available