D46E (p.Asp46Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D46E (p.Asp46Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD X-18564515-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.20
- MetaSVM -0.74
- CADD 21.40
- PolyPhen-2 0.41
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available