C152R (p.Cys152Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C152R (p.Cys152Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
C152R (p.Cys152Arg) variant details
- p.Cys152Arg
- rs1602272932
- ClinGen CA412351039
- ClinVar RCV000815876
- ClinVar RCV001336019
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.57
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Likely pathogenic (in DEE2)
- UniProt: Likely pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)