L16V (p.Leu16Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L16V (p.Leu16Val) 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 record also includes published literature and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs2518776882
- ClinGen CA412489584
- ClinVar RCV003314366
- Uncertain significance
- Developmental and epileptic encephalopathy, 2
- Missense
- 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)