F44L (p.Phe44Leu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
F44L (p.Phe44Leu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- gnomAD X-18564507-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.11
- MetaSVM -0.83
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available