G27R (p.Gly27Arg) variant of GABRA1 (P14867)
G27R (p.Gly27Arg) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized. The record also includes structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- cosmic curated COSV10453
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- UniProt: Uncertain significance
- Structural context available