G46C (p.Gly46Cys) variant of CHD7 (Q9P2D1)
G46C (p.Gly46Cys) in CHD7 (Q9P2D1) is a missense change. The record also includes variant effect predictions and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- ExAC rs758174511
- TOPMed rs758174511
- gnomAD rs758174511
- Missense
- MetaLR 0.14
- MetaSVM -0.93
- SIFT 0.00
- Structural context available