C197Y (p.Cys197Tyr) variant of LDLR (Low-density lipoprotein receptor)
C197Y (p.Cys197Tyr) 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; Homozygous familial hypercholesterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C197Y (p.Cys197Tyr) variant details
- p.Cys197Tyr
- rs376459828
- ClinGen CA023730
- cosmic curated COSV52942
- ClinVar RCV000237811
- Pathogenic/Likely pathogenic
- Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.95
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiova)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)