K43E (p.Lys43Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K43E (p.Lys43Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K43E (p.Lys43Glu) variant details
- p.Lys43Glu
- gnomAD X-18564504-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.21
- MetaSVM -0.70
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available