C1099Y (p.Cys1099Tyr) variant of NOTCH3 (Q9UM47)
C1099Y (p.Cys1099Tyr) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C1099Y (p.Cys1099Tyr) variant details
- p.Cys1099Tyr
- rs1555727841
- ClinGen CA404513034
- ClinVar RCV000517796
- ClinVar RCV000763035
- Pathogenic/Likely pathogenic
- not provided; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lateral meningocele syndrome; Myofibromatosis, inf)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)