R48* (p.Arg48Ter) variant of CDK7 (Cyclin-dependent kinase 7)
R48* (p.Arg48Ter) in CDK7 (Cyclin-dependent kinase 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R48* (p.Arg48Ter) variant details
- p.Arg48Ter
- gnomAD 5-69252433-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available