T36K (p.Thr36Lys) variant of MUSK (O15146)
T36K (p.Thr36Lys) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T36K (p.Thr36Lys) variant details
- p.Thr36Lys
- gnomAD 9-110682698-A-AGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available