E49K (p.Glu49Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E49K (p.Glu49Lys) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD X-18564519-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available