T289A (p.Thr289Ala) variant of GABRA1 (P14867)
T289A (p.Thr289Ala) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
T289A (p.Thr289Ala) variant details
- p.Thr289Ala
- rs189199636
- ClinGen CA362180083
- ClinVar RCV001058754
- ClinVar RCV001815497
- Pathogenic/Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available