R72G (p.Arg72Gly) variant of NOTCH2 (Q04721)
R72G (p.Arg72Gly) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- ExAC rs782131599
- TOPMed rs782131599
- gnomAD rs782131599
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available