T295I (p.Thr295Ile) variant of GABRA1 (P14867)
T295I (p.Thr295Ile) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.80 / 1. The record also includes structural context.
T295I (p.Thr295Ile) variant details
- p.Thr295Ile
- rs796052496
- ClinGen CA314680
- ClinVar RCV000187504
- ClinVar RCV001253629
- Likely pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available