E30D (p.Glu30Asp) variant of LIPC (Hepatic triacylglycerol lipase)
E30D (p.Glu30Asp) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD 15-58538334-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available