C48R (p.Cys48Arg) variant of NOTCH1 (P46531)
C48R (p.Cys48Arg) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C48R (p.Cys48Arg) variant details
- p.Cys48Arg
- Ensembl rs2133379887
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available