E37K (p.Glu37Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E37K (p.Glu37Lys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- gnomAD X-18564486-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.14
- MetaSVM -0.86
- CADD 24.70
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available