Y54* (p.Tyr54Ter) variant of MUSK (O15146)
Y54* (p.Tyr54Ter) in MUSK (O15146) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- TOPMed rs2076149264
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available