L6Q (p.Leu6Gln) variant of LIPC (Hepatic triacylglycerol lipase)
L6Q (p.Leu6Gln) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- ESP rs139328592
- ExAC rs139328592
- TOPMed rs139328592
- gnomAD rs139328592
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.28
- CADD 0.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available