C27R (p.Cys27Arg) variant of LDLR (Low-density lipoprotein receptor)
C27R (p.Cys27Arg) 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 Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f. 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.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- rs1555802245
- ClinGen CA404074603
- ClinVar RCV000508969
- ClinVar RCV001857282
- Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypercholesterolemia)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)