R333C (p.Arg333Cys) variant of LPL (Lipoprotein lipase)
R333C (p.Arg333Cys) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
R333C (p.Arg333Cys) variant details
- p.Arg333Cys
- TOPMed rs992226489
- gnomAD rs992226489
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)