S47R (p.Ser47Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
S47R (p.Ser47Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- gnomAD X-18564518-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- MetaLR 0.23
- MetaSVM -0.74
- CADD 23.00
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available