G251S (p.Gly251Ser) variant of GABRA1 (P14867)
G251S (p.Gly251Ser) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
G251S (p.Gly251Ser) variant details
- p.Gly251Ser
- rs587777307
- ClinGen CA151359
- ClinVar RCV000114936
- ClinVar RCV002514572
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.95
- MetaLR 0.61
- MetaSVM 0.32
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Pathogenic (in DEE19)
- UniProt: Pathogenic (in DEE19)
- Structural context available
- Cited in: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (PMID 24623842)
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)