Q26* (p.Gln26Ter) variant of GABRB3 (P28472)
Q26* (p.Gln26Ter) in GABRB3 (P28472) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs867679278
- ClinVar RCV004586380
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available