S4K (p.Ser4Lys) variant of LIPC (Hepatic triacylglycerol lipase)
S4K (p.Ser4Lys) in LIPC (Hepatic triacylglycerol lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S4K (p.Ser4Lys) variant details
- p.Ser4Lys
- rs760809626
- gnomAD 15-58432040-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available