E37G (p.Glu37Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E37G (p.Glu37Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- gnomAD X-18564487-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- MetaLR 0.34
- MetaSVM -0.29
- CADD 25.90
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available