G54S (p.Gly54Ser) variant of NOTCH1 (P46531)
G54S (p.Gly54Ser) in NOTCH1 (P46531) is a missense change. The record also includes structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- TOPMed rs1843418768
- Missense
- Structural context available