C284Y (p.Cys284Tyr) variant of LDLR (Low-density lipoprotein receptor)
C284Y (p.Cys284Tyr) 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 0.96 / 1. The record also includes structural context.
C284Y (p.Cys284Tyr) variant details
- p.Cys284Tyr
- rs879254694
- NCI-TCGA Cosmic COSV9937
- cosmic curated COSV99370
- ClinGen CA404080656
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available