T112P (p.Thr112Pro) variant of GABRG2 (P18507)
T112P (p.Thr112Pro) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
T112P (p.Thr112Pro) variant details
- p.Thr112Pro
- rs111782778
- ClinGen CA362183684
- ClinVar RCV003795216
- Pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.80
- MetaLR 0.63
- MetaSVM 0.39
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available