R75G (p.Arg75Gly) variant of NOTCH3 (Q9UM47)
R75G (p.Arg75Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
R75G (p.Arg75Gly) variant details
- p.Arg75Gly
- ExAC rs762164861
- TOPMed rs762164861
- gnomAD rs762164861
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available