A40T (p.Ala40Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40T (p.Ala40Thr) 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.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD X-18564495-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- MetaLR 0.73
- MetaSVM 0.76
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available