R59P (p.Arg59Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R59P (p.Arg59Pro) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.54 / 1. The record also includes published literature and structural context.
R59P (p.Arg59Pro) variant details
- p.Arg59Pro
- rs1555949009
- ClinGen CA412348582
- ClinVar RCV000585862
- ClinVar RCV005053950
- Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)