S53P (p.Ser53Pro) variant of CHD7 (Q9P2D1)
S53P (p.Ser53Pro) in CHD7 (Q9P2D1) is a missense change. The record also includes variant effect predictions and structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- TOPMed rs1225403740
- Missense
- MetaLR 0.05
- MetaSVM -1.05
- SIFT 0.41
- Structural context available