E47K (p.Glu47Lys) variant of LPL (Lipoprotein lipase)
E47K (p.Glu47Lys) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs2128837004
- gnomAD 8-19948228-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available