Q73* (p.Gln73Ter) variant of FUS (RNA-binding protein FUS)
Q73* (p.Gln73Ter) in FUS (RNA-binding protein FUS) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs764487847
- ClinGen CA395666508
- ClinVar RCV000519344
- ExAC rs764487847
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.14
- MetaLR 0.60
- MetaSVM 0.24
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.18
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available