A40E (p.Ala40Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40E (p.Ala40Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- gnomAD X-18564496-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- MetaLR 0.70
- MetaSVM 0.66
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available