D46V (p.Asp46Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D46V (p.Asp46Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- gnomAD X-18564514-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- MetaLR 0.27
- MetaSVM -0.52
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available