H36Y (p.His36Tyr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H36Y (p.His36Tyr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- TOPMed rs1170783648
- gnomAD rs1170783648
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.12
- MetaSVM -0.98
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available