C155Y (p.Cys155Tyr) variant of LDLR (Low-density lipoprotein receptor)
C155Y (p.Cys155Tyr) 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 Familial hypercholesterolemia; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C155Y (p.Cys155Tyr) variant details
- p.Cys155Tyr
- rs879254536
- ClinGen CA10584933
- ClinVar RCV000238238
- ClinVar RCV003581599
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. (PMID 19318025)
- Cited in: Functional characterization and classification of frequent low-density lipoprotein receptor variants. (PMID 25378237)