C43F (p.Cys43Phe) variant of NOTCH3 (Q9UM47)
C43F (p.Cys43Phe) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
C43F (p.Cys43Phe) variant details
- p.Cys43Phe
- Ensembl rs1555730204
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available