AHR p.Ala757=
c.2271C>A · rs151173074 · VCV1087093
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.152%, 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 -0.38 | GERP -0.24 |
| Overall | ||
| CADD | 7.315 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.152%
African / African-American · 114/75,032 alleles
Filtering AF
0.129%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.121%
Overall
0.00799%
129/1,614,148 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.152% | 658 |
| Admixed American | 0.015% | 6,669 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,418 |
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.Ala757=
- Coding
- c.2271C>A
- MANE Select
- NM_001621
- dbSNP
- rs151173074
- Type
- single nucleotide variant
- Location
- chr7:17340096 (GRCh38)
- Gene constraint
- LOEUF 0.606 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 56.88 · 3 PDB
- Residue 757
- a UniProt-annotated variant site (in fvh3; likely pathogenic; decreased protein abundance in homozygous patient cells; results in decreased ligand-activated transcription activator activity; cyp1a1 and cyp1b1 expression levels in homozygous patient cells treated with benzanthracene are reduced compared to controls)
Similar variants
- 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
- AHR p.Gln113His 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-ala757 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown