C48S (p.Cys48Ser) variant of NOTCH1 (P46531)
C48S (p.Cys48Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The record also includes structural context.
C48S (p.Cys48Ser) variant details
- p.Cys48Ser
- Ensembl rs1327257445
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available