F55L (p.Phe55Leu) variant of LIPC (Hepatic triacylglycerol lipase)
F55L (p.Phe55Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- rs568178076
- ClinGen CA7584736
- ClinVar RCV003730611
- 1000Genomes rs568178076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.42
- CADD 21.00
- PolyPhen-2 0.15
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available