G198D (p.Gly198Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G198D (p.Gly198Asp) 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; Angelman syndrome-like; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G198D (p.Gly198Asp) variant details
- p.Gly198Asp
- rs1925696959
- ClinGen CA412353172
- ClinVar RCV001303322
- ClinVar RCV004727108
- Pathogenic/Likely pathogenic
- CDKL5 disorder; Angelman syndrome-like; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (CDKL5 disorder; Angelman syndrome-like; Developmental and epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)