C49R (p.Cys49Arg) variant of MUSK (O15146)
C49R (p.Cys49Arg) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- gnomAD rs1435959892
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.85
- MetaLR 0.67
- MetaSVM 0.62
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available