C186Y (p.Cys186Tyr) variant of PROS1 (Vitamin K-dependent protein S)
C186Y (p.Cys186Tyr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du. The record also includes population frequency data and published literature.
C186Y (p.Cys186Tyr) variant details
- p.Cys186Tyr
- rs779391826
- ClinGen CA2503453
- cosmic curated COSV62398
- ClinVar RCV001984812
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Population evidence available
- Cited in: Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. (PMID 8781426)
- Cited in: Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein… (PMID 8943854)