E34K (p.Glu34Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E34K (p.Glu34Lys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- gnomAD X-18564477-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- MetaLR 0.18
- MetaSVM -0.76
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available