C76R (p.Cys76Arg) variant of NOTCH3 (Q9UM47)
C76R (p.Cys76Arg) 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 0.98 / 1. The record also includes published literature and structural context.
C76R (p.Cys76Arg) variant details
- p.Cys76Arg
- rs1555729610
- ClinGen CA404535145
- ClinVar RCV000518298
- UniProt VAR 044236
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. (PMID 12146805)
- Cited in: The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PMID 15229130)