G64R (p.Gly64Arg) variant of GABRB3 (P28472)
G64R (p.Gly64Arg) 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 0.64 / 1. The record also includes population frequency data and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- rs2140199113
- ClinGen CA391465277
- ClinVar RCV001906215
- Ensembl rs2140199113
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.61
- CADD 23.30
- PolyPhen-2 0.25
- SIFT 0.09
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available