FOS p.Pro233=
c.699G>A · rs149102313 · VCV787638
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.115%, 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 -8.9 | GERP -2.8 |
| Overall | ||
| CADD | 0.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.115%
African / African-American · 86/75,024 alleles
Filtering AF
0.095%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0878%
Overall
0.0527%
850/1,614,098 alleles · rare
exomes 746/1,461,864 · genomes 104/152,234 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.115% | 872 |
| Admixed American | 0.065% | 1,539 |
| European (non-Finnish) | 0.0595% | 1,681 |
| Remaining individualsnot grpmax-eligible | 0.0176% | 5,682 |
| Finnishnot grpmax-eligible | 0.0172% | 5,819 |
| South Asian | 0.0011% | 91,074 |
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.Pro233=
- Coding
- c.699G>A
- MANE Select
- NM_005252
- dbSNP
- rs149102313
- Type
- single nucleotide variant
- Location
- chr14:75280980 (GRCh38)
- Gene constraint
- LOEUF 0.581 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 58.48 · 3 PDB
Similar variants
- FOS p.Pro233Ala Likely benign ★★ same residue
- FOS p.Lys176Asn Benign/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
- FOS p.Arg108Gly 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-pro233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown