FOS p.Glu304=
c.912G>A · rs1453447928 · VCV735666
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
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 6.6 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 11.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,944 alleles
Filtering AF
0.000443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000124%
2/1,612,332 alleles · very rare
exomes 1/1,460,116 · genomes 1/152,216 · joint denominator
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
- FOS
- Protein
- p.Glu304=
- Coding
- c.912G>A
- MANE Select
- NM_005252
- dbSNP
- rs1453447928
- Type
- single nucleotide variant
- Location
- chr14:75281193 (GRCh38)
- Gene constraint
- LOEUF 0.581 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 58.48 · 3 PDB
Similar variants
- FOS p.Lys176Asn Benign/Likely benign ★★ ⚠ same type
- FOS p.Pro233= Likely benign ★★ same type
- FOS p.Pro233Ala Likely benign ★★ same type
- FOS p.Thr63= Benign ★★ same type
- FOS p.Arg155Cys Likely pathogenic ★ same type
- FOS p.Ala103Val Uncertain significance ★ ⚠ same type
- FOS p.Ala184Asp Uncertain significance ★ ⚠ same type
- FOS p.Ala203Val Uncertain significance ★ ⚠ same type
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/fos-p-glu304 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown