L67F (p.Leu67Phe) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L67F (p.Leu67Phe) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
L67F (p.Leu67Phe) variant details
- p.Leu67Phe
- rs267608437
- ClinGen CA170464
- ClinVar RCV000133338
- ClinVar RCV000145527
- Uncertain significance
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.99
- MetaLR 0.50
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.40
- ClinVar: Uncertain significance (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)
- Cited in: MECP2 Disorders. (PMID 20301670)