C18W (p.Cys18Trp) variant of NOTCH2 (Q04721)
C18W (p.Cys18Trp) in NOTCH2 (Q04721) is a missense change. The record also includes variant effect predictions and structural context.
C18W (p.Cys18Trp) variant details
- p.Cys18Trp
- ExAC rs782697240
- TOPMed rs782697240
- gnomAD rs782697240
- Missense
- MetaLR 0.04
- MetaSVM -1.06
- SIFT 0.37
- Structural context available