L12V (p.Leu12Val) variant of LIPC (Hepatic triacylglycerol lipase)
L12V (p.Leu12Val) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- rs1893141968
- ClinGen CA392794365
- ClinVar RCV004407374
- TOPMed rs1893141968
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.24
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available