K42Q (p.Lys42Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K42Q (p.Lys42Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- gnomAD X-18564501-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- MetaLR 0.84
- MetaSVM 0.89
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available