C48F (p.Cys48Phe) variant of NOTCH1 (P46531)
C48F (p.Cys48Phe) in NOTCH1 (P46531) is a missense change. The record also includes structural context.
C48F (p.Cys48Phe) variant details
- p.Cys48Phe
- Ensembl rs1327257445
- Missense
- Structural context available