S62* (p.Ser62Ter) variant of STAT1 (P42224)
S62* (p.Ser62Ter) in STAT1 (P42224) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S62* (p.Ser62Ter) variant details
- p.Ser62Ter
- rs2470565458
- ClinGen CA349928034
- ClinVar RCV003989923
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available