R323Q (p.Arg323Gln) variant of GABRG2 (P18507)
R323Q (p.Arg323Gln) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 74; Inborn genetic diseases; EPILEPS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R323Q (p.Arg323Gln) variant details
- p.Arg323Gln
- rs397514737
- ClinGen CA144631
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62717
- Pathogenic
- Developmental and epileptic encephalopathy, 74; Inborn genetic diseases; EPILEPS
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.89
- MetaLR 0.77
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 74; Inborn genetic d)
- EBI: Pathogenic (in GEFSP3 and DEE74)
- UniProt: Pathogenic (in GEFSP3 and DEE74)
- Structural context available
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)
- Cited in: De novo GABRG2 mutations associated with epileptic encephalopathies. (PMID 27864268)