AR p.Phe892_Pro893insPhe
c.2673_2675dup · VCV3347404
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
AR-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
Variant & gene context
- Gene
- AR
- Protein
- p.Phe892_Pro893insPhe
- Coding
- c.2673_2675dup
- MANE Select
- NM_000044
- Type
- Duplication
- Location
- chrX:67723750 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 892
- the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; a UniProt-annotated variant site (in prostate cancer and ais); an α-helix; the 'interaction with lpxn' region
Disease context
AR-related disorder
Similar variants
- AR p.Gly250fs Likely pathogenic ★ same condition
- AR p.Ser208fs Likely pathogenic ★ same condition
- AR p.Phe892Val Uncertain significance ★ ⚠ same residue
- AR c.1616+1_1616+2dup Likely pathogenic same condition
- AR p.Gln88fs Pathogenic same condition
- AR p.Ala597Thr Pathogenic ★★ same condition
- AR p.Arg511Ter Pathogenic ★★ same condition
- AR p.Arg608Gln Pathogenic/Likely pathogenic ★★ same condition
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-phe892-pro893insphe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown