V39M (p.Val39Met) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V39M (p.Val39Met) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- gnomAD X-18564492-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- MetaLR 0.51
- MetaSVM 0.17
- CADD 24.90
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available