D153G (p.Asp153Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D153G (p.Asp153Gly) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D153G (p.Asp153Gly) variant details
- p.Asp153Gly
- rs786204985
- ClinGen CA199402
- ClinVar RCV000170043
- ClinVar RCV004725005
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.81
- PolyPhen-2 0.13
- SIFT 0.03
- EVE 0.82
- ClinVar: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)