R169C (p.Arg169Cys) variant of NOTCH3 (Q9UM47)
R169C (p.Arg169Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult onset neurodegenerative disorder; Cerebral arteriopathy, autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R169C (p.Arg169Cys) variant details
- p.Arg169Cys
- rs28933696
- ClinGen CA340884
- NCI-TCGA Cosmic COSV5462
- ClinVar RCV000009800
- Pathogenic/Likely pathogenic
- Adult onset neurodegenerative disorder; Cerebral arteriopathy, autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.73
- MetaLR 0.81
- MetaSVM 0.62
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Adult onset neurodegenerative disorder; Cerebral arteriopathy, a)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)
- Cited in: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)