H32Y (p.His32Tyr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H32Y (p.His32Tyr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
H32Y (p.His32Tyr) variant details
- p.His32Tyr
- gnomAD X-18510849-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- MetaLR 0.40
- MetaSVM -0.18
- CADD 24.90
- PolyPhen-2 0.35
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available