P69L (p.Pro69Leu) variant of LIPC (Hepatic triacylglycerol lipase)
P69L (p.Pro69Leu) 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 provided; Hyperlipidemia due to hepatic triglyceride lipase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs143550925
- ClinGen CA7584751
- cosmic curated COSV10815
- ClinVar RCV000293436
- Uncertain significance
- not provided; Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.20
- CADD 0.83
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (not provided; Hyperlipidemia due to hepatic triglyceride lipase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available