A40G (p.Ala40Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40G (p.Ala40Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- gnomAD X-18564496-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- MetaLR 0.70
- MetaSVM 0.66
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available