p.Ala50 Val51insThrPheLeu variant of MUSK (O15146)
p.Ala50 Val51insThrPheLeu in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala50 Val51insThrPheLeu variant details
- gnomAD 9-110682743-C-CTA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available