E2V (p.Glu2Val) variant of LPL (Lipoprotein lipase)
E2V (p.Glu2Val) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- TOPMed rs1197167392
- gnomAD rs1197167392
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- MetaLR 0.52
- MetaSVM -0.24
- CADD 24.70
- PolyPhen-2 0.31
- SIFT 0.12
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available