E51K (p.Glu51Lys) variant of LPL (Lipoprotein lipase)
E51K (p.Glu51Lys) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- gnomAD rs1172697567
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 25.20
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available