C639Y (p.Cys639Tyr) variant of PROS1 (Vitamin K-dependent protein S)
C639Y (p.Cys639Tyr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Protein S deficiency disease; Thrombophilia due to protein S deficiency, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
C639Y (p.Cys639Tyr) variant details
- p.Cys639Tyr
- rs1576170616
- ClinGen CA353669955
- ClinVar RCV000851725
- ClinVar RCV003528225
- Pathogenic/Likely pathogenic
- Protein S deficiency disease; Thrombophilia due to protein S deficiency, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Protein S deficiency disease; Thrombophilia due to protein S def)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Structural context available
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)