G6E (p.Gly6Glu) variant of GABRB3 (P28472)
G6E (p.Gly6Glu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- ExAC rs765680963
- TOPMed rs765680963
- gnomAD rs765680963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available