AR p.Pro368fs
c.1103del · rs2519608153 · VCV2630763
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- AR
- Protein
- p.Pro368fs
- Coding
- c.1103del
- MANE Select
- NM_000044
- dbSNP
- rs2519608153
- Type
- Deletion
- Location
- chrX:67546248 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 368
- the 'interaction with znf318' region; the 'modulating' region
Disease context
Similar variants
- AR p.Arg40fs Likely pathogenic ★ same condition
- AR p.Met247fs Likely pathogenic ★ same condition
- AR p.Pro368= Likely benign ★ same residue
- AR p.Ile915fs Pathogenic same condition
- AR p.Leu57_Gln61del Benign 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-pro368fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown