C504Y (p.Cys504Tyr) variant of NOTCH3 (Q9UM47)
C504Y (p.Cys504Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. The record also includes structural context.
C504Y (p.Cys504Tyr) variant details
- p.Cys504Tyr
- rs2512659535
- ClinGen CA404526583
- ClinVar RCV002833079
- Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- ClinVar: Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available