E21E (p.Glu21Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E21E (p.Glu21Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- gnomAD X-18507159-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available