L28I (p.Leu28Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L28I (p.Leu28Ile) 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.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD X-18510837-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.25
- MetaSVM -0.41
- CADD 25.90
- PolyPhen-2 0.38
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available