L124F (p.Leu124Phe) variant of GABRB3 (P28472)
L124F (p.Leu124Phe) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epileptic encephalopathy; Epilepsy, childhood absence, susceptibility to, 1; Epi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L124F (p.Leu124Phe) variant details
- p.Leu124Phe
- rs1057519550
- ClinGen CA16044329
- ClinVar RCV000416972
- ClinVar RCV003766176
- Pathogenic/Likely pathogenic
- Epileptic encephalopathy; Epilepsy, childhood absence, susceptibility to, 1; Epi
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.91
- MetaLR 0.44
- MetaSVM -0.40
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.27
- ClinVar: Pathogenic/Likely pathogenic (Epileptic encephalopathy; Epilepsy, childhood absence, susceptib)
- EBI: Pathogenic (in DEE43)
- UniProt: Pathogenic (in DEE43)
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: De novo mutations in epileptic encephalopathies. (PMID 23934111)