AHR p.Arg359=
c.1077A>T · rs140788225 · VCV1548199
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.04%, 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 -0.21 | GERP -3.8, phastCons 0.005 |
| Overall | ||
| CADD | 2.546 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.04%
African / African-American · 30/74,938 alleles
Filtering AF
0.0288%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0249%
Overall
0.0028%
45/1,609,134 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.04% | 2,498 |
| Middle Eastern | 0.0165% | 6,054 |
| Admixed American | 0.00336% | 29,794 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,142 |
| European (non-Finnish) | 0.00085% | 117,698 |
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
- AHR
- Protein
- p.Arg359=
- Coding
- c.1077A>T
- MANE Select
- NM_001621
- dbSNP
- rs140788225
- Type
- single nucleotide variant
- Location
- chr7:17335703 (GRCh38)
- Gene constraint
- LOEUF 0.606 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 56.88 · 3 PDB
- Residue 359
- the pac domain
Similar variants
- AHR p.Arg359Gln Uncertain significance ★ ⚠ same residue
- AHR p.Ala313Thr Uncertain significance ★★ ⚠ same type
- AHR p.Ala459Ser Uncertain significance ★★ ⚠ same type
- AHR p.Arg352Trp Uncertain significance ★★ ⚠ same type
- AHR p.Asn179His Uncertain significance ★★ ⚠ same type
- AHR p.Asn238Ser Uncertain significance ★★ ⚠ same type
- AHR p.Asn789Ser Uncertain significance ★★ ⚠ same type
- AHR p.Asp841Asn 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/ahr-p-arg359 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown