W68* (p.Trp68Ter) variant of TARDBP (TAR DNA-binding protein 43)
W68* (p.Trp68Ter) in TARDBP (TAR DNA-binding protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W68* (p.Trp68Ter) variant details
- p.Trp68Ter
- rs1356327142
- gnomAD 1-11013931-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 41.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.872
- Literature evidence available