L6R (p.Leu6Arg) variant of LIPC (Hepatic triacylglycerol lipase)
L6R (p.Leu6Arg) 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.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- gnomAD 15-58432049-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.53
- CADD 0.14
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available