C49C (p.Cys49Cys) variant of MUSK (O15146)
C49C (p.Cys49Cys) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C49C (p.Cys49Cys) variant details
- p.Cys49Cys
- rs2076149149
- gnomAD 9-110682741-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 12.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available