R232Q (p.Arg232Gln) variant of GABRB3 (P28472)
R232Q (p.Arg232Gln) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R232Q (p.Arg232Gln) variant details
- p.Arg232Gln
- rs797045045
- ClinGen CA16607760
- ClinVar RCV000431904
- ClinVar RCV000699220
- Pathogenic/Likely pathogenic
- not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epilepsy, childhood absence, susceptibility to, 1;)
- EBI: Pathogenic (found in patients with Dravet syndrome)
- UniProt: Pathogenic (found in patients with Dravet syndrome)
- Structural context available
- Cited in: A mutation in GABRB3 associated with Dravet syndrome. (PMID 28544625)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)