G7E (p.Gly7Glu) variant of GABRB3 (P28472)
G7E (p.Gly7Glu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- rs777263662
- NCI-TCGA Cosmic COSV1001
- ExAC rs777263662
- TOPMed rs777263662
- Benign
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Benign (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00039)
- Structural context available