F44S (p.Phe44Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
F44S (p.Phe44Ser) 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.
F44S (p.Phe44Ser) variant details
- p.Phe44Ser
- gnomAD X-18564508-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- MetaLR 0.30
- MetaSVM -0.46
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available