C70* (p.Cys70Ter) variant of PLAU (P00749)
C70* (p.Cys70Ter) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C70* (p.Cys70Ter) variant details
- p.Cys70Ter
- gnomAD 10-73912940-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available