K33R (p.Lys33Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K33R (p.Lys33Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- gnomAD X-18510853-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- MetaLR 0.14
- MetaSVM -0.95
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available