C340L (p.Cys340Leu) variant of LDLR (Low-density lipoprotein receptor)
C340L (p.Cys340Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp. The record also includes published literature and structural context.
C340L (p.Cys340Leu) variant details
- p.Cys340Leu
- rs879254758
- ClinGen CA10585253
- ClinVar RCV000237320
- ClinVar RCV001203165
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Cardiovascular phenoty)
- 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)