L52V (p.Leu52Val) variant of GABRB3 (P28472)
L52V (p.Leu52Val) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The record also includes structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- rs1057524415
- ClinGen CA391465367
- ClinVar RCV003019321
- ClinVar RCV003147811
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available