M328I (p.Met328Ile) variant of LPL (Lipoprotein lipase)
M328I (p.Met328Ile) 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 not provided; Hyperlipidemia, familial combined, LPL related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
M328I (p.Met328Ile) variant details
- p.Met328Ile
- rs2128838564
- ClinGen CA370469395
- ClinVar RCV002250099
- ClinVar RCV003560886
- Pathogenic/Likely pathogenic
- not provided; Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperlipidemia, familial combined, LPL related)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Population evidence available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)