AHR p.Leu112=
c.336A>G · rs779501119 · VCV1116951
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.165%, mid)
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 -0.027 | GERP -2.8, phastCons 0.005 |
| Overall | ||
| CADD | 4.382 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.165%
Middle Eastern · 10/6,076 alleles
Filtering AF
0.0893%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0679%
Overall
0.00118%
19/1,610,898 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.165% | 608 |
| Remaining individualsnot grpmax-eligible | 0.00641% | 15,589 |
| Admixed American | 0.00167% | 59,924 |
| European (non-Finnish) | 0.00034% | 294,398 |
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.Leu112=
- Coding
- c.336A>G
- MANE Select
- NM_001621
- dbSNP
- rs779501119
- Type
- single nucleotide variant
- Location
- chr7:17322583 (GRCh38)
- Gene constraint
- LOEUF 0.606 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 56.88 · 3 PDB
- Residue 112
- the pas 1 domain
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-leu112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown