E2D (p.Glu2Asp) variant of LPL (Lipoprotein lipase)
E2D (p.Glu2Asp) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ExAC rs753472797
- TOPMed rs753472797
- gnomAD rs753472797
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- MetaLR 0.56
- MetaSVM -0.10
- CADD 22.00
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available