FOS p.Arg159=
c.477G>A · rs1211996202 · VCV796833
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00271%, nfe)
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 5.8 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 14.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00271%
European (non-Finnish) · 32/1,179,968 alleles
Filtering AF
0.00196%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00168%
Overall
0.00204%
33/1,613,980 alleles · very rare
exomes 32/1,461,802 · genomes 1/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00271% | 36,874 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,480 |
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.Arg159=
- Coding
- c.477G>A
- MANE Select
- NM_005252
- dbSNP
- rs1211996202
- Type
- single nucleotide variant
- Location
- chr14:75280643 (GRCh38)
- Gene constraint
- LOEUF 0.581 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 58.48 · 3 PDB
- Residue 159
- the bzip domain; the 'basic motif; required for the activation of phospholipid synthesis, but not for cds1-binding' region; an α-helix
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-arg159 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown