R30E (p.Arg30Glu) variant of CDK7 (Cyclin-dependent kinase 7)
R30E (p.Arg30Glu) in CDK7 (Cyclin-dependent kinase 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R30E (p.Arg30Glu) variant details
- p.Arg30Glu
- gnomAD 5-69235412-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available