C271F (p.Cys271Phe) variant of NOTCH3 (Q9UM47)
C271F (p.Cys271Phe) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The record also includes structural context.
C271F (p.Cys271Phe) variant details
- p.Cys271Phe
- Ensembl rs2145440266
- Pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- ClinVar: Pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available