A195T (p.Ala195Thr) variant of LIPC (Hepatic triacylglycerol lipase)
A195T (p.Ala195Thr) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperlipidemia due to hepatic triglyceride lipase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A195T (p.Ala195Thr) variant details
- p.Ala195Thr
- rs1566946168
- ClinGen CA392612172
- ClinVar RCV000022642
- Ensembl rs1566946168
- Pathogenic
- Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.39
- MetaLR 0.77
- MetaSVM 0.65
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Hyperlipidemia due to hepatic triglyceride lipase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (PMID 12777476)
- Cited in: A hepatic lipase gene mutation associated with heritable lipolytic deficiency. (PMID 1671786)