Y24H (p.Tyr24His) variant of CDKL5 (Cyclin-dependent kinase-like 5)
Y24H (p.Tyr24His) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y24H (p.Tyr24His) variant details
- p.Tyr24His
- gnomAD X-18510825-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- MetaLR 0.32
- MetaSVM -0.35
- CADD 26.20
- PolyPhen-2 0.32
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available