K68Q (p.Lys68Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K68Q (p.Lys68Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K68Q (p.Lys68Gln) variant details
- p.Lys68Gln
- gnomAD X-18575410-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- MetaLR 0.15
- MetaSVM -0.92
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available