L64P (p.Leu64Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L64P (p.Leu64Pro) 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 0.68 / 1. The record also includes published literature and structural context.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- rs267608435
- ClinGen CA170460
- ClinVar RCV000133335
- ClinVar RCV004724851
- Uncertain significance
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (CDKL5 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)