G28R (p.Gly28Arg) variant of NOTCH1 (P46531)
G28R (p.Gly28Arg) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- TOPMed rs1388609508
- gnomAD rs1388609508
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available