P57P (p.Pro57Pro) variant of MUSK (O15146)
P57P (p.Pro57Pro) 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.
P57P (p.Pro57Pro) variant details
- p.Pro57Pro
- gnomAD 9-110682765-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available