PEX3 p.Arg286=
c.856C>A · rs147556993 · VCV286359
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.407%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.47 | acceptor loss, 37 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 2.027 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.407%
African / African-American · 303/74,438 alleles
Filtering AF
0.369%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.355%
Overall
0.0213%
338/1,589,028 alleles · rare
exomes 153/1,437,016 · genomes 185/152,012 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.407% | 246 |
| Remaining individualsnot grpmax-eligible | 0.0195% | 5,137 |
| Admixed American | 0.0167% | 5,993 |
| Finnishnot grpmax-eligible | 0.00156% | 63,954 |
| European (non-Finnish) | 0.00104% | 96,462 |
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
- PEX3
- Protein
- p.Arg286=
- Coding
- c.856C>A
- MANE Select
- NM_003630
- dbSNP
- rs147556993
- Type
- single nucleotide variant
- Location
- chr6:143479113 (GRCh38)
- Gene constraint
- LOEUF 0.972 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 88.94 · 2 PDB
- Residue 286
- an α-helix
Similar variants
- PEX3 p.Arg286Ter Pathogenic ★★ same residue
- PEX3 p.Arg286Gln Uncertain significance ★ ⚠ same residue
- PEX3 c.288-1G>A Pathogenic/Likely pathogenic ★★ same type
- PEX3 c.942-1G>T Likely pathogenic ★★ same type
- PEX3 p.Arg256Ter Pathogenic/Likely pathogenic ★★ same type
- PEX3 p.Trp6Ter Pathogenic ★★ same type
- PEX3 c.818+3A>G Uncertain significance ★★ same type
- PEX3 c.-96G>T 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/pex3-p-arg286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown