L4R (p.Leu4Arg) variant of GABRB3 (P28472)
L4R (p.Leu4Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- rs2504096015
- ClinGen CA391465688
- ClinVar RCV002300145
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.25
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available