C67Y (p.Cys67Tyr) variant of NOTCH3 (Q9UM47)
C67Y (p.Cys67Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
C67Y (p.Cys67Tyr) variant details
- p.Cys67Tyr
- rs1555729615
- UniProt VAR 044235
- Ensembl rs1555729615
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 1.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. (PMID 12589106)
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)