S199C (p.Ser199Cys) variant of LPL (Lipoprotein lipase)
S199C (p.Ser199Cys) 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 0.88 / 1. The record also includes published literature.
S199C (p.Ser199Cys) variant details
- p.Ser199Cys
- rs118204072
- ClinGen CA251882
- ClinVar RCV000001609
- UniProt VAR 004221
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.81
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Cited in: High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible… (PMID 8077845)
- Cited in: Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys… (PMID 8486765)