E34E (p.Glu34Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E34E (p.Glu34Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E34E (p.Glu34Glu) variant details
- p.Glu34Glu
- gnomAD X-18564479-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available