R10P (p.Arg10Pro) variant of NOTCH3 (Q9UM47)
R10P (p.Arg10Pro) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- TOPMed rs2047007730
- Uncertain significance
- Missense
- MetaLR 0.72
- MetaSVM 0.21
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available