E38Q (p.Glu38Gln) variant of LPL (Lipoprotein lipase)
E38Q (p.Glu38Gln) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- gnomAD 8-19948203-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available