C197R (p.Cys197Arg) variant of LDLR (Low-density lipoprotein receptor)
C197R (p.Cys197Arg) 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; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C197R (p.Cys197Arg) variant details
- p.Cys197Arg
- rs730882085
- ClinGen CA023725
- ClinVar RCV000161961
- ClinVar RCV000211695
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.95
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial… (PMID 9026534)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)