T288R (p.Thr288Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T288R (p.Thr288Arg) 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 0.37 / 1. The record also includes published literature and structural context.
T288R (p.Thr288Arg) variant details
- p.Thr288Arg
- rs267606713
- ClinGen CA412355847
- ClinVar RCV002512396
- ClinVar RCV003776058
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.95
- MetaLR 0.20
- MetaSVM -0.76
- PolyPhen-2 0.78
- SIFT 0.01
- EVE 0.28
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Likely pathogenic (in DEE2)
- UniProt: Likely pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)