G202W (p.Gly202Trp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G202W (p.Gly202Trp) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
G202W (p.Gly202Trp) variant details
- p.Gly202Trp
- rs2147148032
- ClinGen CA412353223
- ClinVar RCV001926048
- Ensembl rs2147148032
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)