V39A (p.Val39Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V39A (p.Val39Ala) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD X-18564493-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.46
- MetaSVM 0.02
- CADD 25.00
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available