Factor X deficiency: genes and variants
Factor X deficiency is linked to 1 analyzed protein (F10). 10 DNA variants are known to cause it; 11 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: congenital factor X deficiency; Factor x deficiency, autosomal dominant
Genes linked to Factor X deficiency
F10: Coagulation factor X
After activation to factor Xa, it converts prothrombin to thrombin within the prothrombinase complex and therefore occupies a central position in the coagulation cascade. Biallelic deficiency causes a rare bleeding disorder, while factor Xa is a major target of direct oral anticoagulants.
10 disease-causing and 11 uncertain variants in F10 are linked to Factor X deficiency.
Where Factor X deficiency variants cluster
- F10 Gla (positions 41–85): 3 of 10 disease-causing changes, 3.2× more than its size predicts.
Known disease-causing variants in Factor X deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F10 E69K | 69 | Gla | Disease-causing (★) |
| F10 G289R | 289 | Peptidase S1 | Disease-causing |
| F10 D322N | 322 | Peptidase S1 | Disease-causing |
| F10 E47G | 47 | Gla | Disease-causing |
| F10 P383S | 383 | Peptidase S1 | Disease-causing |
| F10 R366C | 366 | Peptidase S1 | Disease-causing |
| F10 S374P | 374 | Peptidase S1 | Disease-causing |
| F10 V338M | 338 | Peptidase S1 | Disease-causing |
| F10 E72Q | 72 | Gla | Disease-causing |
| F10 R287W | 287 | Peptidase S1 | Disease-causing |
Same protein, different disease
- Hereditary factor X deficiency disease is also caused by F10 variants; they fall mostly in different places as the Factor X deficiency variants (15 disease-causing).
Diseases related to Factor X deficiency
- Hereditary factor X deficiency disease, also linked to F10
- Ischemic stroke, also linked to F10
Frequently asked questions
Which genes are linked to Factor X deficiency?
In CATVariant, Factor X deficiency is linked to 1 analyzed protein: F10 (Coagulation factor X).
How many genetic variants are linked to Factor X deficiency?
55 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor X deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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.
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