A27A (p.Ala27Ala) variant of MUSK (O15146)
A27A (p.Ala27Ala) in MUSK (O15146) is a protein-truncating 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.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- gnomAD 9-110682675-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.99
- Population evidence available
- Structural context available
- Literature evidence available