T35I (p.Thr35Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T35I (p.Thr35Ile) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- gnomAD X-18564481-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- MetaLR 0.28
- MetaSVM -0.49
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available