USP9X p.Pro27=
c.81C>T · rs757981727 · VCV2957916
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00101%, nfe)
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 1.8 | GERP 0.93, phastCons 1 |
| Overall | ||
| CADD | 10.92 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00101%
European (non-Finnish) · 9/894,810 alleles
Filtering AF
0.000473%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000343%
Overall
0.000744%
9/1,209,341 alleles · very rare
exomes 8/1,097,421 · genomes 1/111,920 · joint denominator
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
- USP9X
- Protein
- p.Pro27=
- Coding
- c.81C>T
- MANE Select
- NM_001039591
- dbSNP
- rs757981727
- Type
- single nucleotide variant
- Location
- chrX:41123709 (GRCh38)
- Structure
- AlphaFold pLDDT 80.06 · 4 PDB
- Residue 27
- the 'disordered' region
Similar variants
- USP9X p.Pro27His Uncertain significance ★★ ⚠ same residue
- USP9X p.Pro27Arg Uncertain significance ★ ⚠ same residue
- USP9X c.323-1G>A Pathogenic/Likely pathogenic ★★ same type
- USP9X p.Arg2085His Pathogenic/Likely pathogenic ★★ same type
- USP9X p.Arg2366Ter Pathogenic/Likely pathogenic ★★ same type
- USP9X p.Arg592Ter Pathogenic ★★ same type
- USP9X p.Arg916Ter Pathogenic ★★ same type
- USP9X c.6086-7T>G Uncertain significance ★★ 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/usp9x-p-pro27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown