E69* (p.Glu69Ter) variant of APOC2 (Apolipoprotein C-II)
E69* (p.Glu69Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E69* (p.Glu69Ter) variant details
- p.Glu69Ter
- 1000Genomes rs148445956
- ESP rs148445956
- ExAC rs148445956
- TOPMed rs148445956
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 44.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available