E52E (p.Glu52Glu) variant of MUSK (O15146)
E52E (p.Glu52Glu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E52E (p.Glu52Glu) variant details
- p.Glu52Glu
- gnomAD 9-110682750-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 11.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available