E2K (p.Glu2Lys) variant of LPL (Lipoprotein lipase)
E2K (p.Glu2Lys) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD rs1341991169
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- MetaLR 0.41
- MetaSVM -0.58
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available