D46G (p.Asp46Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D46G (p.Asp46Gly) 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 and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- Ensembl rs910518253
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.26
- MetaSVM -0.54
- CADD 28.30
- PolyPhen-2 0.29
- SIFT 0.00
- Population evidence available
- Structural context available