T288I (p.Thr288Ile) variant of GABRA1 (P14867)
T288I (p.Thr288Ile) 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 0.83 / 1. The record also includes structural context.
T288I (p.Thr288Ile) variant details
- p.Thr288Ile
- rs1755330256
- ClinGen CA362180081
- ClinVar RCV001236606
- Ensembl rs1755330256
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available