AR p.Ile817=
c.2451T>C · rs1555997755 · VCV434268
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 7.8 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 12.64 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AR
- Protein
- p.Ile817=
- Coding
- c.2451T>C
- MANE Select
- NM_000044
- dbSNP
- rs1555997755
- Type
- single nucleotide variant
- Location
- chrX:67722828 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 817
- the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; a β-strand; the 'interaction with lpxn' 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-ile817 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown