C677R (p.Cys677Arg) variant of LDLR (Low-density lipoprotein receptor)
C677R (p.Cys677Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C677R (p.Cys677Arg) variant details
- p.Cys677Arg
- rs775092314
- ClinGen CA038234
- ClinVar RCV000211671
- ClinVar RCV000791370
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Cardiovascular phenoty)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary… (PMID 17142622)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)