K33E (p.Lys33Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K33E (p.Lys33Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- gnomAD X-18510852-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- MetaLR 0.20
- MetaSVM -0.66
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available