R141C (p.Arg141Cys) variant of NOTCH3 (Q9UM47)
R141C (p.Arg141Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cerebral arteriopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R141C (p.Arg141Cys) variant details
- p.Arg141Cys
- rs1174625611
- ClinGen CA404534145
- ClinVar RCV000518361
- ClinVar RCV001089753
- Pathogenic
- Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cerebral arteriopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.87
- CADD 29.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cer)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)
- Cited in: Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PMID 10371548)