S53E (p.Ser53Glu) variant of MUSK (O15146)
S53E (p.Ser53Glu) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S53E (p.Ser53Glu) variant details
- p.Ser53Glu
- gnomAD 9-110682750-A-AGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available