L23F (p.Leu23Phe) variant of LIPC (Hepatic triacylglycerol lipase)
L23F (p.Leu23Phe) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.12 / 1. The record also includes population frequency data and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- rs145398861
- ClinGen CA7584675
- ClinVar RCV001119411
- ClinVar RCV002556546
- Conflicting interpretations
- not provided; Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.10
- CADD 0.48
- PolyPhen-2 0.19
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperlipidemia due to hepatic triglyceride lipase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.14)
- Structural context available