M1L (p.Met1Leu) variant of LDLR (Low-density lipoprotein receptor)
M1L (p.Met1Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The record also includes variant effect predictions, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs879254382
- ClinGen CA10584720
- ClinVar RCV000238419
- ClinVar RCV001220717
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- MetaLR 0.73
- MetaSVM 0.54
- PolyPhen-2 0.17
- SIFT 0.00
- MutPred 0.57
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)