H273P (p.His273Pro) variant of LPL (Lipoprotein lipase)
H273P (p.His273Pro) 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 0.73 / 1. The record also includes published literature.
H273P (p.His273Pro) variant details
- p.His273Pro
- rs773407951
- ClinGen CA370469017
- ClinVar RCV003127227
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.66
- MetaLR 0.80
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.44
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)