L16I (p.Leu16Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L16I (p.Leu16Ile) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD X-18507142-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- MetaLR 0.15
- MetaSVM -0.84
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available