S76F (p.Ser76Phe) variant of GABRB3 (P28472)
S76F (p.Ser76Phe) 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.
S76F (p.Ser76Phe) variant details
- p.Ser76Phe
- rs2504093929
- ClinGen CA391465185
- ClinVar RCV003812468
- 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