C89Y (p.Cys89Tyr) variant of LDLR (Low-density lipoprotein receptor)
C89Y (p.Cys89Tyr) 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 Homozygous familial hypercholesterolemia; Familial hypercholesterolemia; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C89Y (p.Cys89Tyr) variant details
- p.Cys89Tyr
- rs875989894
- ClinGen CA10576274
- ClinVar RCV000211649
- ClinVar RCV000780382
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Familial hypercholesterolemia; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Familial hypercholeste)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary… (PMID 17142622)
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)