C204R (p.Cys204Arg) variant of LDLR (Low-density lipoprotein receptor)
C204R (p.Cys204Arg) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C204R (p.Cys204Arg) variant details
- p.Cys204Arg
- rs1057519655
- ClinGen CA404077804
- ClinVar RCV001973440
- ClinVar RCV002352683
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)