K42M (p.Lys42Met) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K42M (p.Lys42Met) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K42M (p.Lys42Met) variant details
- p.Lys42Met
- gnomAD X-18564502-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- MetaLR 0.84
- MetaSVM 0.90
- CADD 26.10
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available