W71C (p.Trp71Cys) variant of NOTCH3 (Q9UM47)
W71C (p.Trp71Cys) 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 0.96 / 1. The record also includes published literature and structural context.
W71C (p.Trp71Cys) variant details
- p.Trp71Cys
- rs28937321
- ClinGen CA340883
- ClinVar RCV000009799
- ClinVar RCV001659689
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. (PMID 8878478)
- Cited in: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. (PMID 9388399)