H46R (p.His46Arg) variant of LIPC (Hepatic triacylglycerol lipase)
H46R (p.His46Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- rs1276070198
- ClinGen CA392610746
- ClinVar RCV004407372
- TOPMed rs1276070198
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.17
- CADD 7.19
- PolyPhen-2 0.09
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available