S28* (p.Ser28Ter) variant of PROS1 (Vitamin K-dependent protein S)
S28* (p.Ser28Ter) in PROS1 (Vitamin K-dependent protein S) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs1576198449
- ClinGen CA353674735
- ClinVar RCV001027527
- Ensembl rs1576198449
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic