G25E (p.Gly25Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G25E (p.Gly25Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- gnomAD X-18510827-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available