I252T (p.Ile252Thr) variant of LPL (Lipoprotein lipase)
I252T (p.Ile252Thr) 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 Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
I252T (p.Ile252Thr) variant details
- p.Ile252Thr
- rs118204080
- ClinGen CA251891
- ClinVar RCV000001619
- ClinVar RCV001039273
- Pathogenic/Likely pathogenic
- Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 26.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperlipidemia, familial combined, LPL related; Hyperlipoprotein)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 5.2e-05)
- Cited in: Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. (PMID 9714430)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)