T14Y (p.Thr14Tyr) variant of MUSK (O15146)
T14Y (p.Thr14Tyr) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T14Y (p.Thr14Tyr) variant details
- p.Thr14Tyr
- gnomAD 9-110668941-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available