G95R (p.Gly95Arg) variant of PROS1 (Vitamin K-dependent protein S)
G95R (p.Gly95Arg) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH5. The record also includes published literature.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- UniProt VAR 046817
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on… (PMID 11927129)
- Cited in: Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and… (PMID 9241758)