E34G (p.Glu34Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E34G (p.Glu34Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD X-18564478-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- MetaLR 0.29
- MetaSVM -0.49
- CADD 27.60
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available