S396C (p.Ser396Cys) variant of NOTCH3 (Q9UM47)
S396C (p.Ser396Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S396C (p.Ser396Cys) variant details
- p.Ser396Cys
- rs863225297
- ClinGen CA347693
- ClinVar RCV000201951
- ClinVar RCV001657989
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.71
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.51
- ClinVar: Pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)