K43R (p.Lys43Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K43R (p.Lys43Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- gnomAD X-18564505-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.18
- MetaSVM -0.74
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available