D46D (p.Asp46Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D46D (p.Asp46Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- rs2147132270
- gnomAD X-18564515-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available