E14E (p.Glu14Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E14E (p.Glu14Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous 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.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs1300830629
- gnomAD X-18507138-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available