E47V (p.Glu47Val) variant of LIPC (Hepatic triacylglycerol lipase)
E47V (p.Glu47Val) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E47V (p.Glu47Val) variant details
- p.Glu47Val
- gnomAD 15-58538384-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.21
- MetaLR 0.53
- MetaSVM -0.52
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available