C76W (p.Cys76Trp) variant of NOTCH3 (Q9UM47)
C76W (p.Cys76Trp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
C76W (p.Cys76Trp) variant details
- p.Cys76Trp
- rs2145443753
- UniProt VAR 044237
- Ensembl rs2145443753
- Uncertain significance
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- 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)