I136M (p.Ile136Met) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I136M (p.Ile136Met) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
I136M (p.Ile136Met) variant details
- p.Ile136Met
- rs1310022305
- ClinGen CA412350731
- ClinVar RCV001062625
- gnomAD rs1310022305
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.96
- MetaLR 0.30
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)