G22G (p.Gly22Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G22G (p.Gly22Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G22G (p.Gly22Gly) variant details
- p.Gly22Gly
- gnomAD X-18510821-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available