L67L (p.Leu67Leu) variant of MUSK (O15146)
L67L (p.Leu67Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L67L (p.Leu67Leu) variant details
- p.Leu67Leu
- gnomAD 9-110682795-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 7.67
- Population evidence available
- Structural context available
- Literature evidence available