E77D (p.Glu77Asp) variant of GABRB3 (P28472)
E77D (p.Glu77Asp) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The record also includes structural context.
E77D (p.Glu77Asp) variant details
- p.Glu77Asp
- rs151221282
- ClinGen CA391465177
- ClinVar RCV003787788
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available