p.Ser53 Tyr54insTer variant of MUSK (O15146)
p.Ser53 Tyr54insTer in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser53 Tyr54insTer variant details
- gnomAD 9-110682752-C-CAT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available