E30K (p.Glu30Lys) variant of LIPC (Hepatic triacylglycerol lipase)
E30K (p.Glu30Lys) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 15-58432120-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.42
- CADD 32.00
- PolyPhen-2 0.05
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available