I38V (p.Ile38Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I38V (p.Ile38Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD X-18564489-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.12
- MetaSVM -0.83
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available