AR p.Ile184=
c.552C>A · VCV4951188
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0142%, sas)
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 1.3 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 11.45 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0142%
South Asian · 8/56,143 alleles
Filtering AF
0.00701%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00511%
Overall
0.000746%
9/1,207,028 alleles · ultra-rare
exomes 8/1,094,936 · genomes 1/112,092 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0142% | 7,018 |
| Remaining individualsnot grpmax-eligible | 0.00211% | 47,487 |
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
- AR
- Protein
- p.Ile184=
- Coding
- c.552C>A
- MANE Select
- NM_000044
- Type
- single nucleotide variant
- Location
- chrX:67545698 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 184
- the 'interaction with znf318' region; the 'modulating' region
Similar variants
- AR c.1768+2T>C Pathogenic/Likely pathogenic ★★ same type
- AR c.1769-11T>A Pathogenic ★★ same type
- AR c.2450-6C>G Pathogenic ★★ same type
- AR p.Ala588Pro Pathogenic/Likely pathogenic ★★ same type
- AR p.Ala597Thr Pathogenic ★★ same type
- AR p.Ala688Val Pathogenic/Likely pathogenic ★★ same type
- AR p.Ala766Thr Pathogenic ★★ same type
- AR p.Ala871Val Pathogenic/Likely pathogenic ★★ 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/ar-p-ile184 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown