E48G (p.Glu48Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E48G (p.Glu48Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense 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.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- gnomAD X-18564520-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- MetaLR 0.23
- MetaSVM -0.60
- CADD 26.80
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available