G22R (p.Gly22Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G22R (p.Gly22Arg) 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 Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs1922607139
- ClinGen CA412489619
- ClinVar RCV001253697
- ClinVar RCV005909224
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)