V26I (p.Val26Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V26I (p.Val26Ile) 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.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- gnomAD X-18510831-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- MetaLR 0.33
- MetaSVM -0.37
- CADD 24.10
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available