S47G (p.Ser47Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
S47G (p.Ser47Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- gnomAD X-18564516-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- MetaLR 0.14
- MetaSVM -0.91
- CADD 23.00
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available