C57S (p.Cys57Ser) variant of NOTCH1 (P46531)
C57S (p.Cys57Ser) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C57S (p.Cys57Ser) variant details
- p.Cys57Ser
- Ensembl rs2133379776
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available