K2R (p.Lys2Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K2R (p.Lys2Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- gnomAD X-18507101-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- MetaLR 0.32
- MetaSVM -0.19
- CADD 25.70
- PolyPhen-2 0.81
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available