E49* (p.Glu49Ter) variant of APOC2 (Apolipoprotein C-II)
E49* (p.Glu49Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- gnomAD 19-44948790-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available