I6T (p.Ile6Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I6T (p.Ile6Thr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs746036179
- ClinGen CA10360170
- cosmic curated COSV10749
- ClinVar RCV002900452
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- MetaLR 0.23
- MetaSVM -0.48
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)