C184Y (p.Cys184Tyr) variant of LDLR (Low-density lipoprotein receptor)
C184Y (p.Cys184Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C184Y (p.Cys184Tyr) variant details
- p.Cys184Tyr
- rs121908039
- ClinGen CA023721
- ClinVar RCV000003937
- ClinVar RCV000587146
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- 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: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)
- Cited in: Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. (PMID 9678702)