H273R (p.His273Arg) variant of LPL (Lipoprotein lipase)
H273R (p.His273Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
H273R (p.His273Arg) variant details
- p.His273Arg
- rs773407951
- ClinGen CA4655542
- ClinVar RCV003062155
- ClinVar RCV003314049
- Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.66
- MetaLR 0.80
- MetaSVM 0.67
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)