P54S (p.Pro54Ser) variant of GABRB3 (P28472)
P54S (p.Pro54Ser) 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, 5; Epilepsy, childhood absence. The record also includes structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs2504095043
- ClinGen CA391465354
- ClinVar RCV003799910
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available