PEX26 p.Pro33=
c.99G>A · rs1284941471 · VCV1610691
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00232%, eas)
Conditions
2
peroxisome biogenesis disorder 7A (Zellweger)
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 -3.1 |
| Overall | ||
| CADD | 2.205 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00232%
East Asian · 1/43,182 alleles
Filtering AF
0.00112%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000913%
Overall
0.0014%
22/1,573,788 alleles · very rare
exomes 19/1,421,700 · genomes 3/152,088 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00232% | 43,182 |
| European (non-Finnish) | 0.00172% | 58,119 |
| African / African-American | 0.00135% | 74,220 |
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
- PEX26
- Protein
- p.Pro33=
- Coding
- c.99G>A
- MANE Select
- NM_001127649
- dbSNP
- rs1284941471
- Type
- single nucleotide variant
- Location
- chr22:18078475 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.87
Similar variants
- PEX26 p.Pro33Arg Uncertain significance ★ ⚠ same residue
- PEX26 p.Pro33Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- PEX26 c.230+1G>T Pathogenic ★★ same condition
- PEX26 c.667+2T>C Pathogenic/Likely pathogenic ★★ same condition
- PEX26 p.Arg192Ter Pathogenic/Likely pathogenic ★★ same condition
- PEX26 p.Arg98Trp Pathogenic/Likely pathogenic ★★ same condition
- PEX26 p.Gln146Ter Pathogenic ★★ same condition
- PEX26 p.Gly89Arg 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/pex26-p-pro33 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown