G11S (p.Gly11Ser) variant of GABRB3 (P28472)
G11S (p.Gly11Ser) in GABRB3 (P28472) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in ECA5, the mutant protein is hyperglycosylated and has reduced mean current de. 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.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD rs1158134414
- Benign
- in ECA5, the mutant protein is hyperglycosylated and has reduced mean current de
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.21
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Benign (in ECA5, the mutant protein is hyperglycosylated and has reduced)
- UniProt: Benign (in ECA5, the mutant protein is hyperglycosylated and has reduced)
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available