K42E (p.Lys42Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K42E (p.Lys42Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- gnomAD X-18564501-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- MetaLR 0.81
- MetaSVM 0.83
- CADD 24.80
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available