E55D (p.Glu55Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E55D (p.Glu55Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- gnomAD X-18575373-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- MetaLR 0.23
- MetaSVM -0.65
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available