H36N (p.His36Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H36N (p.His36Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H36N (p.His36Asn) variant details
- p.His36Asn
- gnomAD X-18564483-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.03
- MetaSVM -1.03
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available