H36Q (p.His36Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H36Q (p.His36Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD X-18564485-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available