E49* (p.Glu49Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E49* (p.Glu49Ter) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- gnomAD X-18564522-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 57.00
- Population evidence available
- Structural context available
- Literature evidence available