A23D (p.Ala23Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A23D (p.Ala23Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD X-18510823-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- MetaLR 0.59
- MetaSVM 0.41
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available