M1I (p.Met1Ile) variant of LDLR (Low-density lipoprotein receptor)
M1I (p.Met1Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The record also includes variant effect predictions, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs879254383
- ClinGen CA404071097
- ClinVar RCV000508870
- ClinGen CA10584721
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- MetaLR 0.76
- MetaSVM 0.62
- PolyPhen-2 0.53
- SIFT 0.00
- MutPred 0.55
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)