L14S (p.Leu14Ser) variant of LIPC (Hepatic triacylglycerol lipase)
L14S (p.Leu14Ser) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L14S (p.Leu14Ser) variant details
- p.Leu14Ser
- NCI-TCGA TCGA novel
- TOPMed rs1893142090
- gnomAD rs1893142090
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.37
- CADD 16.40
- PolyPhen-2 0.08
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available