G20V (p.Gly20Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G20V (p.Gly20Val) 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 0.86 / 1. The record also includes published literature and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- rs786204962
- ClinGen CA412489610
- ClinVar RCV001507056
- ClinVar RCV001819879
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)