C30* (p.Cys30Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C30* (p.Cys30Ter) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C30* (p.Cys30Ter) variant details
- p.Cys30Ter
- gnomAD X-18510845-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available