C49F (p.Cys49Phe) variant of NOTCH3 (Q9UM47)
C49F (p.Cys49Phe) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C49F (p.Cys49Phe) variant details
- p.Cys49Phe
- rs193921045
- ClinGen CA174091
- ClinVar RCV000149001
- ClinVar RCV001657843
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.88
- MetaLR 1.00
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PMID 15364702)
- Cited in: Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (PMID 16009764)