E2* (p.Glu2Ter) variant of LPL (Lipoprotein lipase)
E2* (p.Glu2Ter) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 8-19939444-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available