G22A (p.Gly22Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G22A (p.Gly22Ala) 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 not provided; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- rs1602232972
- ClinGen CA412489769
- ClinVar RCV001089707
- ClinVar RCV001593260
- Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)