C173W (p.Cys173Trp) variant of LDLR (Low-density lipoprotein receptor)
C173W (p.Cys173Trp) 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 Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C173W (p.Cys173Trp) variant details
- p.Cys173Trp
- rs769318035
- ClinGen CA10584968
- ClinVar RCV000238354
- ClinVar RCV000478384
- Pathogenic/Likely pathogenic
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Cardiovascular phenotype; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)