S4R (p.Ser4Arg) variant of LIPC (Hepatic triacylglycerol lipase)
S4R (p.Ser4Arg) 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 0.12 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- rs1893140808
- ClinGen CA392794320
- ClinVar RCV003695611
- Ensembl rs1893140808
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.12
- CADD 9.23
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available