A13T (p.Ala13Thr) variant of GABRA1 (P14867)
A13T (p.Ala13Thr) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The record also includes structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- cosmic curated COSV50100
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- UniProt: Uncertain significance
- Structural context available