R72P (p.Arg72Pro) variant of NOTCH2 (Q04721)
R72P (p.Arg72Pro) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
R72P (p.Arg72Pro) variant details
- p.Arg72Pro
- 1000Genomes rs201838650
- ESP rs201838650
- ExAC rs201838650
- TOPMed rs201838650
- Likely benign
- Missense
- MetaLR 0.02
- MetaSVM -0.91
- SIFT 0.96
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available