A50A (p.Ala50Ala) variant of MUSK (O15146)
A50A (p.Ala50Ala) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A50A (p.Ala50Ala) variant details
- p.Ala50Ala
- gnomAD 9-110682744-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.21
- Population evidence available
- Structural context available
- Literature evidence available