R178L (p.Arg178Leu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R178L (p.Arg178Leu) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R178L (p.Arg178Leu) variant details
- p.Arg178Leu
- rs267606715
- ClinGen CA412352495
- ClinVar RCV003085978
- ClinVar RCV006635994
- Pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)