S254F (p.Ser254Phe) variant of GABRB3 (P28472)
S254F (p.Ser254Phe) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S254F (p.Ser254Phe) variant details
- p.Ser254Phe
- rs1057519549
- ClinGen CA16044328
- ClinVar RCV000416942
- ClinVar RCV002521496
- Pathogenic/Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- 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)