V53D (p.Val53Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V53D (p.Val53Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V53D (p.Val53Asp) variant details
- p.Val53Asp
- gnomAD X-18575366-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- MetaLR 0.27
- MetaSVM -0.44
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available