C49G (p.Cys49Gly) variant of NOTCH3 (Q9UM47)
C49G (p.Cys49Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lateral meningocele syndrome; Cerebral arteriopathy, autosomal dominant, with su. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C49G (p.Cys49Gly) variant details
- p.Cys49Gly
- rs1555730197
- ClinGen CA404483409
- ClinVar RCV000710993
- ClinVar RCV002485786
- Pathogenic/Likely pathogenic
- Lateral meningocele syndrome; Cerebral arteriopathy, autosomal dominant, with su
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Lateral meningocele syndrome; Cerebral arteriopathy, autosomal d)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- 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)