P8P (p.Pro8Pro) variant of MUSK (O15146)
P8P (p.Pro8Pro) 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.
P8P (p.Pro8Pro) variant details
- p.Pro8Pro
- rs1489453069
- gnomAD 9-110668928-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available