D72E (p.Asp72Glu) variant of MUSK (O15146)
D72E (p.Asp72Glu) in MUSK (O15146) is a missense change. The record also includes variant effect predictions and structural context.
D72E (p.Asp72Glu) variant details
- p.Asp72Glu
- TOPMed rs2076206669
- Missense
- MetaLR 0.13
- MetaSVM -0.87
- SIFT 0.01
- Structural context available