L70L (p.Leu70Leu) variant of MUSK (O15146)
L70L (p.Leu70Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L70L (p.Leu70Leu) variant details
- p.Leu70Leu
- gnomAD 9-110687120-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.34
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available