I41V (p.Ile41Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I41V (p.Ile41Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- gnomAD X-18564498-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- MetaLR 0.17
- MetaSVM -0.71
- CADD 20.70
- PolyPhen-2 0.17
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available