E70D (p.Glu70Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E70D (p.Glu70Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E70D (p.Glu70Asp) variant details
- p.Glu70Asp
- TOPMed rs1925264018
- gnomAD rs1925264018
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- MetaLR 0.06
- MetaSVM -1.04
- CADD 18.80
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available