R44S (p.Arg44Ser) variant of LPL (Lipoprotein lipase)
R44S (p.Arg44Ser) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- rs2069900707
- ClinGen CA370466848
- ClinVar RCV001580730
- Ensembl rs2069900707
- Uncertain significance
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Hyperlipoproteinemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)