M1I (p.Met1Ile) variant of LPL (Lipoprotein lipase)
M1I (p.Met1Ile) 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; Hyperlipidemia, familial combined, LPL related. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2540092140
- ClinGen CA370464586
- ClinVar RCV002841954
- Pathogenic
- Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, LPL related
- Missense
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available