C30R (p.Cys30Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C30R (p.Cys30Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- gnomAD X-18510843-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- MetaLR 0.21
- MetaSVM -0.69
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available