F52* (p.Phe52Ter) variant of LIPC (Hepatic triacylglycerol lipase)
F52* (p.Phe52Ter) in LIPC (Hepatic triacylglycerol lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F52* (p.Phe52Ter) variant details
- p.Phe52Ter
- gnomAD 15-58538382-T-TGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available