AR p.Ser648=
c.1944C>T · rs1380028281 · VCV3046456
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.1 | GERP -3.4 |
| Overall | ||
| CADD | 0.391 | 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.Ser648=
- Coding
- c.1944C>T
- MANE Select
- NM_000044
- dbSNP
- rs1380028281
- Type
- single nucleotide variant
- Location
- chrX:67711460 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 648
- the 'interaction with hipk3' region; a UniProt-annotated variant site (in prostate cancer); the 'interaction with ccar1' region; the 'interaction with kat7' region; the 'interaction with lpxn' region
Disease context
AR-related disorder
Similar variants
- AR p.Ser648Asn Pathogenic ⚠ same residue
- AR p.Ala597Thr Pathogenic ★★ same condition
- AR p.Arg511Ter Pathogenic ★★ same condition
- AR p.Arg608Gln Pathogenic/Likely pathogenic ★★ same condition
- AR p.Arg753Gln Pathogenic/Likely pathogenic ★★ same condition
- AR p.Arg841Cys Pathogenic ★★ same condition
- AR p.Arg841His Pathogenic ★★ ⚠ same condition
- AR p.Arg856Leu 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-ser648 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown