K45T (p.Lys45Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K45T (p.Lys45Thr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K45T (p.Lys45Thr) variant details
- p.Lys45Thr
- gnomAD X-18564511-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- MetaLR 0.40
- MetaSVM -0.06
- CADD 25.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available