F52S (p.Phe52Ser) variant of LIPC (Hepatic triacylglycerol lipase)
F52S (p.Phe52Ser) in LIPC (Hepatic triacylglycerol lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F52S (p.Phe52Ser) variant details
- p.Phe52Ser
- rs1893209277
- gnomAD 15-58538397-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available