C184W (p.Cys184Trp) variant of LDLR (Low-density lipoprotein receptor)
C184W (p.Cys184Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C184W (p.Cys184Trp) variant details
- p.Cys184Trp
- rs879254571
- ClinGen CA10584985
- ClinVar RCV000238405
- UniProt VAR 072833
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; not pro)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial… (PMID 11462246)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)