L24F (p.Leu24Phe) variant of MUSK (O15146)
L24F (p.Leu24Phe) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- gnomAD 9-110668973-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available