A98T (p.Ala98Thr) variant of LPL (Lipoprotein lipase)
A98T (p.Ala98Thr) 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 Cardiovascular phenotype; Hyperlipoproteinemia, type I; Hyperlipidemia, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- rs145657341
- ClinGen CA4655376
- ClinVar RCV001568938
- ClinVar RCV001827495
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hyperlipoproteinemia, type I; Hyperlipidemia, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hyperlipoproteinemia, type I; Hyperlip)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available
- Cited in: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. (PMID 12204001)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)