K43* (p.Lys43Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K43* (p.Lys43Ter) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K43* (p.Lys43Ter) variant details
- p.Lys43Ter
- gnomAD X-18564504-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available