C48W (p.Cys48Trp) variant of NOTCH1 (P46531)
C48W (p.Cys48Trp) in NOTCH1 (P46531) is a missense change. The record also includes structural context.
C48W (p.Cys48Trp) variant details
- p.Cys48Trp
- Ensembl rs2133379881
- Missense
- Structural context available