E48* (p.Glu48Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E48* (p.Glu48Ter) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- gnomAD X-18564519-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available