Q88* (p.Gln88Ter) variant of SPTA1 (P02549)
Q88* (p.Gln88Ter) in SPTA1 (P02549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
Q88* (p.Gln88Ter) variant details
- p.Gln88Ter
- rs2101957676
- ClinGen CA343025228
- ClinVar RCV001783802
- Ensembl rs2101957676
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic