I6V (p.Ile6Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I6V (p.Ile6Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs1922604127
- ClinGen CA412489510
- ClinVar RCV003781379
- TOPMed rs1922604127
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -0.77
- PolyPhen-2 0.51
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)