G20* (p.Gly20Ter) variant of MUSK (O15146)
G20* (p.Gly20Ter) in MUSK (O15146) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G20* (p.Gly20Ter) variant details
- p.Gly20Ter
- ExAC rs758427621
- TOPMed rs758427621
- gnomAD rs758427621
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available