F32C (p.Phe32Cys) variant of LIPC (Hepatic triacylglycerol lipase)
F32C (p.Phe32Cys) 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 0.29 / 1. The record also includes population frequency data and structural context.
F32C (p.Phe32Cys) variant details
- p.Phe32Cys
- rs766043850
- ClinGen CA7584724
- ClinVar RCV002610150
- ExAC rs766043850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.31
- CADD 21.70
- PolyPhen-2 0.65
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available