R65* (p.Arg65Ter) variant of LIPC (Hepatic triacylglycerol lipase)
R65* (p.Arg65Ter) in LIPC (Hepatic triacylglycerol lipase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R65* (p.Arg65Ter) variant details
- p.Arg65Ter
- rs369262181
- ClinGen CA7584747
- cosmic curated COSV54422
- ClinVar RCV001982841
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)