C204F (p.Cys204Phe) variant of LDLR (Low-density lipoprotein receptor)
C204F (p.Cys204Phe) 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 0.97 / 1. The record also includes published literature and structural context.
C204F (p.Cys204Phe) variant details
- p.Cys204Phe
- rs879254592
- ClinGen CA10585012
- ClinVar RCV000237647
- ClinVar RCV002356332
- Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)