C49W (p.Cys49Trp) variant of MUSK (O15146)
C49W (p.Cys49Trp) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C49W (p.Cys49Trp) variant details
- p.Cys49Trp
- gnomAD 9-110682741-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.82
- MetaLR 0.64
- MetaSVM 0.39
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available