K42N (p.Lys42Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K42N (p.Lys42Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD X-18564503-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- MetaLR 0.83
- MetaSVM 0.92
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available