I72N (p.Ile72Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I72N (p.Ile72Asn) 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 0.70 / 1. The record also includes published literature and structural context.
I72N (p.Ile72Asn) variant details
- p.Ile72Asn
- rs62641235
- ClinGen CA170469
- ClinVar RCV000133344
- ClinVar RCV004724858
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: Early onset seizures and Rett-like features associated with mutations in CDKL5. (PMID 16015284)
- Cited in: Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (PMID 12736870)