E52Q (p.Glu52Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E52Q (p.Glu52Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The record also includes variant effect predictions and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- cosmic curated COSV66110
- Missense
- MetaLR 0.25
- MetaSVM -0.57
- SIFT 0.06
- Structural context available