F13I (p.Phe13Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
F13I (p.Phe13Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
F13I (p.Phe13Ile) variant details
- p.Phe13Ile
- rs2147092100
- ClinGen CA412489560
- ClinVar RCV001823439
- Ensembl rs2147092100
- Uncertain significance
- Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)