G64E (p.Gly64Glu) variant of GABRB3 (P28472)
G64E (p.Gly64Glu) 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 0.42 / 1. The record also includes structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- rs1891175434
- ClinGen CA391465274
- ClinVar RCV002009397
- TOPMed rs1891175434
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.98
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 0.34
- SIFT 0.07
- EVE 0.30
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available