C146Y (p.Cys146Tyr) variant of NOTCH3 (Q9UM47)
C146Y (p.Cys146Tyr) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C146Y (p.Cys146Tyr) variant details
- p.Cys146Tyr
- rs1236699193
- ClinGen CA404534075
- ClinVar RCV000518724
- ClinVar RCV000763040
- Pathogenic
- Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cerebral arteriopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.96
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 1.50
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cer)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)