C88Y (p.Cys88Tyr) variant of PROS1 (Vitamin K-dependent protein S)
C88Y (p.Cys88Tyr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein S deficiency, autosomal dominant. The record also includes published literature.
C88Y (p.Cys88Tyr) variant details
- p.Cys88Tyr
- rs2472148966
- ClinGen CA353674152
- ClinVar RCV003484581
- UniProt VAR 046813
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)