D72* (p.Asp72Ter) variant of MUSK (O15146)
D72* (p.Asp72Ter) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D72* (p.Asp72Ter) variant details
- p.Asp72Ter
- gnomAD 9-110687120-C-CT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 32.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available