T292I (p.Thr292Ile) variant of GABRA1 (P14867)
T292I (p.Thr292Ile) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
T292I (p.Thr292Ile) variant details
- p.Thr292Ile
- rs2113464322
- ClinGen CA362180103
- ClinVar RCV003781039
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available