K42R (p.Lys42Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K42R (p.Lys42Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CDKL5 disorder; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- rs267608429
- ClinGen CA171606
- ClinVar RCV000133319
- ClinVar RCV000145514
- Pathogenic/Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.79
- MetaSVM 0.79
- CADD 25.50
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)