C209Y (p.Cys209Tyr) variant of LDLR (Low-density lipoprotein receptor)
C209Y (p.Cys209Tyr) 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; Dyslipidemia; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C209Y (p.Cys209Tyr) variant details
- p.Cys209Tyr
- rs879254600
- ClinGen CA10585022
- ClinVar RCV000237316
- ClinVar RCV001523918
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dyslipidemia; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dyslipidemia; Familial hypercholestero)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)