Factor XIII, A subunit, deficiency of: genes and variants
Factor XIII, A subunit, deficiency of is linked to 1 analyzed protein (F13A1). 13 DNA variants are known to cause it; 30 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Factor XIII, A subunit, deficiency of
F13A1: Coagulation factor XIII A chain
After thrombin activation, it crosslinks fibrin strands and other proteins to stabilize the newly formed blood clot. Biallelic deficiency causes severe bleeding with poor wound healing and a characteristic risk of delayed bleeding and intracranial hemorrhage.
13 disease-causing and 30 uncertain variants in F13A1 are linked to Factor XIII, A subunit, deficiency of.
Known disease-causing variants in Factor XIII, A subunit, deficiency of
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F13A1 G274R | 274 | Disease-causing (★★) | |
| F13A1 R327Q | 327 | Disease-causing (★★) | |
| F13A1 R78C | 78 | Disease-causing (★) | |
| F13A1 R78H | 78 | Disease-causing (★) | |
| F13A1 S296R | 296 | Disease-causing (★) | |
| F13A1 R704W | 704 | Disease-causing (★) | |
| F13A1 G313R | 313 | Disease-causing (★) | |
| F13A1 M243T | 243 | Disease-causing | |
| F13A1 V317F | 317 | Disease-causing | |
| F13A1 N61K | 61 | Disease-causing | |
| F13A1 G563R | 563 | Disease-causing | |
| F13A1 Y284C | 284 | Disease-causing | |
| F13A1 V415F | 415 | Disease-causing |
Uncertain variants in Factor XIII, A subunit, deficiency of that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| F13A1 R78L | 78 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R78C at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.894 |
Which prediction tools work for Factor XIII, A subunit, deficiency of
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 95 out of 100
- CADD: 95 out of 100
- phyloP: 87 out of 100
Diseases related to Factor XIII, A subunit, deficiency of
- Thrombophilia due to thrombin defect, also linked to F13A1
- Factor XIII deficiency, also linked to F13A1
Frequently asked questions
Which genes are linked to Factor XIII, A subunit, deficiency of?
In CATVariant, Factor XIII, A subunit, deficiency of is linked to 1 analyzed protein: F13A1 (Coagulation factor XIII A chain).
How many genetic variants are linked to Factor XIII, A subunit, deficiency of?
66 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 30 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor XIII, A subunit, deficiency of look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example F13A1 R78L. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Factor XIII, A subunit, deficiency of?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.95, based on 12 disease-causing and 12 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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