E60* (p.Glu60Ter) variant of APOC2 (Apolipoprotein C-II)
E60* (p.Glu60Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- gnomAD 19-44948823-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available