R56G (p.Arg56Gly) variant of NOTCH1 (P46531)
R56G (p.Arg56Gly) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- gnomAD rs1348892740
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available