E47Q (p.Glu47Gln) variant of LIPC (Hepatic triacylglycerol lipase)
E47Q (p.Glu47Gln) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- gnomAD 15-58538383-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.27
- MetaLR 0.65
- MetaSVM -0.26
- CADD 9.92
- PolyPhen-2 0.34
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available