P31F (p.Pro31Phe) variant of GABRB3 (P28472)
P31F (p.Pro31Phe) 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.
P31F (p.Pro31Phe) variant details
- p.Pro31Phe
- rs2504095254
- ClinGen CA2580089146
- ClinVar RCV002943089
- 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