P241S (p.Pro241Ser) variant of LPL (Lipoprotein lipase)
P241S (p.Pro241Ser) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
P241S (p.Pro241Ser) variant details
- p.Pro241Ser
- rs2128838194
- ClinGen CA370468627
- ClinVar RCV001619762
- ClinVar RCV005094853
- Pathogenic/Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)