G155S (p.Gly155Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G155S (p.Gly155Ser) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G155S (p.Gly155Ser) variant details
- p.Gly155Ser
- rs2518851425
- ClinGen CA412351255
- ClinVar RCV003051655
- Pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- MetaLR 0.85
- MetaSVM 0.90
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)