E55E (p.Glu55Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E55E (p.Glu55Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E55E (p.Glu55Glu) variant details
- p.Glu55Glu
- gnomAD X-18575373-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.88
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available