Q96* (p.Gln96Ter) variant of GBA1 (P04062)
Q96* (p.Gln96Ter) in GBA1 (P04062) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- gnomAD rs1175898417
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 34.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available