D2E (p.Asp2Glu) variant of LIPC (Hepatic triacylglycerol lipase)
D2E (p.Asp2Glu) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- 1000Genomes rs544198137
- ExAC rs544198137
- gnomAD rs544198137
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.13
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available