I3F (p.Ile3Phe) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I3F (p.Ile3Phe) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I3F (p.Ile3Phe) variant details
- p.Ile3Phe
- rs138539908
- ClinGen CA10360168
- ClinVar RCV000460307
- 1000Genomes rs138539908
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.39
- MetaSVM -0.20
- CADD 26.40
- PolyPhen-2 0.71
- SIFT 0.03
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0064)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)