R177G (p.Arg177Gly) variant of GABRG2 (P18507)
R177G (p.Arg177Gly) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
R177G (p.Arg177Gly) variant details
- p.Arg177Gly
- rs267606837
- ClinGen CA126272
- ClinVar RCV000017597
- UniProt VAR 038602
- Pathogenic
- Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.65
- MetaLR 0.41
- MetaSVM -0.19
- PolyPhen-2 0.89
- SIFT 0.05
- EVE 0.25
- ClinVar: Pathogenic (Febrile seizures, familial, 8)
- EBI: Pathogenic (in FEB8)
- UniProt: Pathogenic (in FEB8)
- Structural context available
- Cited in: A novel GABRG2 mutation associated with febrile seizures. (PMID 16924025)