R82Q (p.Arg82Gln) variant of GABRG2 (P18507)
R82Q (p.Arg82Gln) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- rs121909673
- ClinGen CA126267
- ClinVar RCV000017592
- ClinVar RCV000017593
- Conflicting interpretations
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.83
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Pathogenic (in ECA2 and FEB8)
- UniProt: Pathogenic (in ECA2 and FEB8)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. (PMID 11326275)
- Cited in: A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma… (PMID 15342642)