S146* (p.Ser146Ter) variant of GBA1 (P04062)
S146* (p.Ser146Ter) in GBA1 (P04062) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GD2 and GD3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S146* (p.Ser146Ter) variant details
- p.Ser146Ter
- ExAC rs758447515
- TOPMed rs758447515
- gnomAD rs758447515
- Pathogenic
- in GD2 and GD3
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- EBI: Pathogenic (in GD2 and GD3)
- UniProt: Pathogenic (in GD2 and GD3)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available