PEX26 p.Ser211=
c.633A>G · VCV4946832
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.7 | GERP -4.4 |
| Overall | ||
| CADD | 0.492 | 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
- PEX26
- Protein
- p.Ser211=
- Coding
- c.633A>G
- MANE Select
- NM_001127649
- Type
- single nucleotide variant
- Location
- chr22:18083698 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.87
Similar variants
- PEX26 c.230+1G>T Pathogenic ★★ same type
- PEX26 c.667+2T>C Pathogenic/Likely pathogenic ★★ same type
- PEX26 p.Arg192Ter Pathogenic/Likely pathogenic ★★ same type
- PEX26 p.Arg98Trp Pathogenic/Likely pathogenic ★★ same type
- PEX26 p.Gln146Ter Pathogenic ★★ same type
- PEX26 p.Gly89Arg Pathogenic/Likely pathogenic ★★ ⚠ same type
- PEX26 p.Trp62Ter Pathogenic/Likely pathogenic ★★ same type
- PEX26 c.230+3A>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/pex26-p-ser211 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown