JUN p.Ser73=
c.219G>T · rs143155569 · VCV720254
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.26%, 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 -0.76 | GERP -1.8, phastCons 0.008 |
| Overall | ||
| CADD | 9.475 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.26%
African / African-American · 195/75,026 alleles
Filtering AF
0.23%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.219%
Overall
0.0157%
254/1,614,014 alleles · rare
exomes 129/1,461,744 · genomes 125/152,270 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.26% | 385 |
| Admixed American | 0.0416% | 2,401 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,841 |
| Middle Eastern | 0.033% | 3,031 |
| South Asian | 0.0022% | 45,531 |
| European (non-Finnish) | 0.000678% | 147,502 |
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
- JUN
- Protein
- p.Ser73=
- Coding
- c.219G>T
- MANE Select
- NM_002228
- dbSNP
- rs143155569
- Type
- single nucleotide variant
- Location
- chr1:58782852 (GRCh38)
- Gene constraint
- LOEUF 0.716 · pLI 0.47 (gnomAD)
- Structure
- AlphaFold pLDDT 62.45 · 10 PDB
- Residue 73
- a modified residue (phosphoserine; by mapk8 and plk3)
Similar variants
- JUN p.Ala148Val Uncertain significance ★ ⚠ same type
- JUN p.Ala161Ser Uncertain significance ★ ⚠ same type
- JUN p.Ala187Ser Uncertain significance ★ ⚠ same type
- JUN p.Ala224Gly Uncertain significance ★ ⚠ same type
- JUN p.Asn175Asp Uncertain significance ★ ⚠ same type
- JUN p.Asn314Lys Uncertain significance ★ ⚠ same type
- JUN p.Gln218Arg Uncertain significance ★ ⚠ same type
- JUN p.Gln290Arg 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/jun-p-ser73 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown