PPOX p.Arg176=
c.528T>G · rs2525250144 · VCV2015298
Likely benign
Single submitter
Classification
Likely benign
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 -2.4 | GERP -3.4 |
| Overall | ||
| CADD | 5.921 | 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
- PPOX
- Protein
- p.Arg176=
- Coding
- c.528T>G
- MANE Select
- NM_001122764
- dbSNP
- rs2525250144
- Type
- single nucleotide variant
- Location
- chr1:161168488 (GRCh38)
- Gene constraint
- LOEUF 0.581 · pLI 0.24 (gnomAD)
- Structure
- AlphaFold pLDDT 95.39 · 3 PDB
- Residue 176
- a turn
Similar variants
- PPOX p.Arg176His Uncertain significance ★ ⚠ same residue
- PPOX p.Arg176Leu Uncertain significance ★ ⚠ same residue
- PPOX c.-9G>A Likely pathogenic ★★ same type
- PPOX p.Arg168His Pathogenic/Likely pathogenic ★★ ⚠ same type
- PPOX p.Arg59Trp Pathogenic ★★ same type
- PPOX p.Gln189Ter Pathogenic ★★ same type
- PPOX p.Gln435Ter Pathogenic/Likely pathogenic ★★ same type
- PPOX p.Glu133Ter 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/ppox-p-arg176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown