Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 8 submitters
gnomAD v4.1
Common
common (popmax 39.2%, amr) — too common for a highly-penetrant pathogenic allele
Conditions
4
thrombophilia due to thrombin defect
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -2.4, phastCons 0.071 |
| Overall | ||
| CADD | 4.349 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
39.2%
Admixed American · 23,501/59,996 alleles
Filtering AF
38.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 38.6%
Overall
26.9%
434,533/1,613,564 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 39.2% | 3 |
| South Asian | 32.5% | 3 |
| Middle Eastern | 27.4% | 4 |
| European (non-Finnish) | 27.1% | 4 |
| Remaining individualsnot grpmax-eligible | 26.4% | 4 |
| East Asian | 22.7% | 4 |
| Finnishnot grpmax-eligible | 21.6% | 5 |
| Amishnot grpmax-eligible | 19.1% | 5 |
| African / African-American | 18.2% | 6 |
| Ashkenazi Jewishnot grpmax-eligible | 17.5% | 6 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- F5
- Protein
- p.Asn745=
- Coding
- c.2235T>C
- MANE Select
- NM_000130
- dbSNP
- rs6017
- Type
- single nucleotide variant
- Location
- chr1:169542855 (GRCh38)
- Gene constraint
- LOEUF 0.704 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.57 · 23 PDB
- Residue 745
- the 'b' region
Similar variants
- F5 p.Asn745Ser Uncertain significance ★ ⚠ same residue
- F5 c.1297-2A>G Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Arg1030Ter Pathogenic ★★ same condition
- F5 p.Arg146Ter Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Arg1621Ter Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Arg1634Ter Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Arg2102His Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Arg740Ter Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/f5-p-asn745 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown