R323G (p.Arg323Gly) variant of GABRG2 (P18507)
R323G (p.Arg323Gly) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
R323G (p.Arg323Gly) variant details
- p.Arg323Gly
- rs796052510
- ClinGen CA362182387
- ClinVar RCV001217542
- gnomAD rs796052510
- Likely pathogenic
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Pathogenic (in DEE74)
- UniProt: Pathogenic (in DEE74)
- Structural context available