L15L (p.Leu15Leu) variant of MUSK (O15146)
L15L (p.Leu15Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L15L (p.Leu15Leu) variant details
- p.Leu15Leu
- gnomAD 9-110668947-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 11.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available