W176C (p.Trp176Cys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
W176C (p.Trp176Cys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
W176C (p.Trp176Cys) variant details
- p.Trp176Cys
- rs786204989
- ClinGen CA199411
- ClinVar RCV000170050
- ClinVar RCV001850413
- Pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 1.00
- MetaLR 0.36
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)