G6* (p.Gly6Ter) variant of GABRB3 (P28472)
G6* (p.Gly6Ter) in GABRB3 (P28472) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G6* (p.Gly6Ter) variant details
- p.Gly6Ter
- gnomAD rs868185545
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available