V19I (p.Val19Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V19I (p.Val19Ile) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- gnomAD X-18507151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- MetaLR 0.10
- MetaSVM -0.89
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available