S220R (p.Ser220Arg) variant of LPL (Lipoprotein lipase)
S220R (p.Ser220Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
S220R (p.Ser220Arg) variant details
- p.Ser220Arg
- rs757546424
- UniProt VAR 004226
- ExAC rs757546424
- TOPMed rs757546424
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK… (PMID 9401010)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)