Protein S deficiency: genes and variants
Explore variant evidence for Protein S deficiency across 1 analyzed protein (PROS1). Linked ClinVar records include 7 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 6 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Protein S deficiency
PROS1: Vitamin K-dependent protein S
It serves as an essential cofactor for activated protein C and also participates in TAM-receptor signaling involved in clearance of apoptotic cells. Heterozygous deficiency increases susceptibility to venous thrombosis, while severe deficiency can cause neonatal purpura fulminans.
7 ClinVar pathogenic / likely pathogenic and 12 uncertain variants in PROS1 have source records linked to Protein S deficiency. Association strength is not clinical gene validity.
Where Protein S deficiency variants cluster
- PROS1 Laminin G-like 2 (positions 484–666): 3 of 7 ClinVar pathogenic / likely pathogenic variants, 1.6× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Protein S deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PROS1 C639Y | 639 | Laminin G-like 2 | Pathogenic / likely pathogenic (★★) |
| PROS1 C666R | 666 | Laminin G-like 2 | Pathogenic / likely pathogenic (★) |
| PROS1 S324P | 324 | Laminin G-like 1 | Pathogenic / likely pathogenic (★) |
| PROS1 F72S | 72 | Gla | Pathogenic / likely pathogenic (★) |
| PROS1 R515C | 515 | Laminin G-like 2 | Pathogenic / likely pathogenic (★) |
| PROS1 P118L | 118 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| PROS1 D376N | 376 | Laminin G-like 1 | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- Thrombophilia due to protein S deficiency, autosomal recessive also has ClinVar records linked to PROS1 variants; they fall mostly in different places as the Protein S deficiency variants (26 pathogenic / likely pathogenic).
Diseases related to Protein S deficiency
- Thrombophilia due to protein S deficiency, autosomal recessive, also linked to PROS1
- Heart disease, also linked to PROS1
Frequently asked questions
Which genes have records linked to Protein S deficiency?
This view contains 1 analyzed proteins: PROS1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 7 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 6 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 30 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center