G487R (p.Gly487Arg) variant of PROS1 (Vitamin K-dependent protein S)
G487R (p.Gly487Arg) 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 dominant. The record also includes published literature and structural context.
G487R (p.Gly487Arg) variant details
- p.Gly487Arg
- rs2472115014
- ClinGen CA353667704
- ClinVar RCV003388269
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)