F13S (p.Phe13Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
F13S (p.Phe13Ser) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- rs1922605766
- ClinGen CA412489564
- ClinVar RCV001194616
- ClinVar RCV001204295
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)