C49del (p.Cys49del) variant of MUSK (O15146)
C49del (p.Cys49del) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C49del (p.Cys49del) variant details
- gnomAD 9-110682738-GTGT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 20.70
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available