V78D (p.Val78Asp) variant of GABRB3 (P28472)
V78D (p.Val78Asp) 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.
V78D (p.Val78Asp) variant details
- p.Val78Asp
- rs2504093906
- ClinGen CA391465173
- ClinVar RCV003801028
- 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