R207C (p.Arg207Cys) variant of NOTCH3 (Q9UM47)
R207C (p.Arg207Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Lateral meningocele syndrome; Myofibromatosis, infantile, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R207C (p.Arg207Cys) variant details
- p.Arg207Cys
- rs775267348
- ClinGen CA9263848
- ClinVar RCV000517748
- ClinVar RCV000763039
- Pathogenic/Likely pathogenic
- not provided; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.78
- MetaLR 0.69
- MetaSVM 0.46
- CADD 23.60
- PolyPhen-2 0.61
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lateral meningocele syndrome; Myofibromatosis, inf)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PMID 10371548)
- Cited in: Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. (PMID 11102981)