C368R (p.Cys368Arg) variant of LDLR (Low-density lipoprotein receptor)
C368R (p.Cys368Arg) 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 Cardiovascular phenotype; Familial hypercholesterolemia; Dyslipidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C368R (p.Cys368Arg) variant details
- p.Cys368Arg
- rs879254791
- ClinGen CA10654849
- ClinVar RCV000408876
- ClinVar RCV002230212
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Dyslipidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Dyslipi)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia… (PMID 9452094)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)