S38* (p.Ser38Ter) variant of GBA1 (P04062)
S38* (p.Ser38Ter) in GBA1 (P04062) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S38* (p.Ser38Ter) variant details
- p.Ser38Ter
- rs2524851054
- ClinGen CA342729521
- ClinVar RCV003145804
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available