H32Q (p.His32Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H32Q (p.His32Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H32Q (p.His32Gln) variant details
- p.His32Gln
- gnomAD X-18510851-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- MetaLR 0.28
- MetaSVM -0.52
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available