R323W (p.Arg323Trp) variant of GABRG2 (P18507)
R323W (p.Arg323Trp) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R323W (p.Arg323Trp) variant details
- p.Arg323Trp
- rs796052510
- ClinGen CA314732
- ClinVar RCV000196679
- ClinVar RCV001260612
- Pathogenic/Likely pathogenic
- Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.46
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Febrile seizures, familial, 8; Developmental and epileptic encep)
- EBI: Pathogenic (in DEE74)
- UniProt: Pathogenic (in DEE74)
- Population evidence available
- Structural context available
- Cited in: De novo GABRG2 mutations associated with epileptic encephalopathies. (PMID 27864268)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)