Q32* (p.Gln32Ter) variant of GABRA1 (P14867)
Q32* (p.Gln32Ter) in GABRA1 (P14867) 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 0.87 / 1. The record also includes population frequency data and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs769743354
- ClinGen CA211941
- ClinVar RCV000209844
- ClinVar RCV000484867
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available