I15V (p.Ile15Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I15V (p.Ile15Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- gnomAD X-18507139-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- MetaLR 0.06
- MetaSVM -1.04
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available