L142V (p.Leu142Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L142V (p.Leu142Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome-like; 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.
L142V (p.Leu142Val) variant details
- p.Leu142Val
- rs1925493252
- ClinGen CA412350829
- ClinVar RCV001340524
- Ensembl rs1925493252
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.56
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)