I72T (p.Ile72Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I72T (p.Ile72Thr) 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 0.70 / 1. The record also includes published literature and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- rs62641235
- ClinGen CA121523
- ClinVar RCV000012258
- ClinVar RCV000080068
- 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: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. (PMID 19241098)
- Cited in: A CDKL5 mutated child with precocious puberty. (PMID 19396824)