S70* (p.Ser70Ter) variant of FUS (RNA-binding protein FUS)
S70* (p.Ser70Ter) in FUS (RNA-binding protein FUS) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S70* (p.Ser70Ter) variant details
- p.Ser70Ter
- gnomAD 16-31183876-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available