F7 p.Glu73=
c.219G>A · rs36208758 · VCV311223
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.57%, nfe)
Conditions
1
factor VII deficiency
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 0.79 | GERP -2, phastCons 1 |
| Overall | ||
| CADD | 7.24 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.57%
European (non-Finnish) · 18,121/1,152,364 alleles
Filtering AF
1.55%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.55%
Overall
1.35%
20,983/1,559,296 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.57% | 64 |
| Middle Eastern | 1.39% | 72 |
| South Asian | 1.19% | 84 |
| Remaining individualsnot grpmax-eligible | 1.09% | 92 |
| Finnishnot grpmax-eligible | 0.968% | 103 |
| Admixed American | 0.588% | 170 |
| Amishnot grpmax-eligible | 0.548% | 182 |
| Ashkenazi Jewishnot grpmax-eligible | 0.272% | 368 |
| African / African-American | 0.218% | 458 |
| East Asian | 0.00239% | 41,864 |
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
- F7
- Protein
- p.Glu73=
- Coding
- c.219G>A
- MANE Select
- NM_019616
- dbSNP
- rs36208758
- Type
- single nucleotide variant
- Location
- chr13:113110844 (GRCh38)
- Gene constraint
- LOEUF 1.113 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.64 · 114 PDB
- Residue 73
- the gla domain; a UniProt-annotated variant site (in fa7d)
Similar variants
- F7 p.Glu73Lys Uncertain significance ★★ ⚠ same residue
- F7 c.364+1G>A Pathogenic/Likely pathogenic ★★ same condition
- F7 c.615+1G>T Pathogenic/Likely pathogenic ★★ same condition
- F7 c.-30A>C Likely pathogenic ★★ same condition
- F7 c.-55C>T Pathogenic/Likely pathogenic ★★ same condition
- F7 c.-61T>G Likely pathogenic ★★ same condition
- F7 p.Ala282Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- F7 p.Ala332Val 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/f7-p-glu73 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown