R74L (p.Arg74Leu) variant of MUSK (O15146)
R74L (p.Arg74Leu) in MUSK (O15146) 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.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- ExAC rs758118087
- TOPMed rs758118087
- gnomAD rs758118087
- Uncertain significance
- Missense
- MetaLR 0.35
- MetaSVM -0.37
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available