Factor VII deficiency: genes and variants
Factor VII deficiency is linked to 1 analyzed protein (F7). 8 DNA variants are known to cause it; 9 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 VII deficiency
Genes linked to Factor VII deficiency
F7: Coagulation factor VII
It binds tissue factor at sites of vascular injury and initiates coagulation by activating factors IX and X. Biallelic deficiency causes a rare bleeding disorder with highly variable severity, while recombinant activated factor VII is used therapeutically in selected bleeding conditions.
8 disease-causing and 8 uncertain variants in F7 are linked to Factor VII deficiency.
Weakly linked (only a few uncertain records): F8.
Where Factor VII deficiency variants cluster
- F7 Peptidase S1 (positions 213–452): 7 of 8 disease-causing changes, 1.7× more than its size predicts.
Known disease-causing variants in Factor VII deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F7 R364W | 364 | Peptidase S1 | Disease-causing (★★) |
| F7 R337C | 337 | Peptidase S1 | Disease-causing (★★) |
| F7 R364Q | 364 | Peptidase S1 | Disease-causing (★★) |
| F7 A429T | 429 | Peptidase S1 | Disease-causing (★★) |
| F7 A354V | 354 | Peptidase S1 | Disease-causing (★★) |
| F7 A304V | 304 | Peptidase S1 | Disease-causing (★★) |
| F7 R307H | 307 | Peptidase S1 | Disease-causing (★★) |
| F7 N117D | 117 | EGF-like 1 | Disease-causing |
Which prediction tools work for Factor VII deficiency
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 84 out of 100
- MetaLR: 30 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Factor VII deficiency
- Myocardial infarction, also linked to F7
Frequently asked questions
Which genes are linked to Factor VII deficiency?
In CATVariant, Factor VII deficiency is linked to 1 analyzed protein: F7 (Coagulation factor VII).
How many genetic variants are linked to Factor VII deficiency?
93 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor VII deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Factor VII deficiency?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.84, based on 8 disease-causing and 40 harmless variants).
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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