L13L (p.Leu13Leu) variant of MUSK (O15146)
L13L (p.Leu13Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 9-110668943-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available