G11C (p.Gly11Cys) variant of GABRB3 (P28472)
G11C (p.Gly11Cys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of GABRB3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- rs1158134414
- ClinGen CA391465651
- ClinVar RCV003907138
- gnomAD rs1158134414
- Benign
- GABRB3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 0.63
- SIFT 0.07
- ClinVar: Benign (GABRB3-related disorder)
- EBI: Benign (in ECA5, the mutant protein is hyperglycosylated and has reduced)
- UniProt: Benign (in ECA5, the mutant protein is hyperglycosylated and has reduced)
- Population evidence available
- Structural context available