Y54D (p.Tyr54Asp) variant of MUSK (O15146)
Y54D (p.Tyr54Asp) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Y54D (p.Tyr54Asp) variant details
- p.Tyr54Asp
- ExAC rs763142796
- TOPMed rs763142796
- gnomAD rs763142796
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- MetaLR 0.17
- MetaSVM -0.82
- CADD 24.30
- PolyPhen-2 0.77
- SIFT 0.44
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available