E2G (p.Glu2Gly) variant of LPL (Lipoprotein lipase)
E2G (p.Glu2Gly) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 8-19939445-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- MetaLR 0.41
- MetaSVM -0.49
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available