p.Thr78 Tyr97del variant of FUS (RNA-binding protein FUS)
p.Thr78 Tyr97del in FUS (RNA-binding protein FUS) 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.
p.Thr78 Tyr97del variant details
- gnomAD 16-31183897-CGACT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 20.10
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available