T181S (p.Thr181Ser) variant of GABRG2 (P18507)
T181S (p.Thr181Ser) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The record also includes structural context.
T181S (p.Thr181Ser) variant details
- p.Thr181Ser
- rs2532569554
- ClinGen CA362184461
- ClinVar RCV003808215
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available