PEX3 p.Val182fs
c.544_545del · rs1562654726 · VCV591848
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PEX3
- Protein
- p.Val182fs
- Coding
- c.544_545del
- MANE Select
- NM_003630
- dbSNP
- rs1562654726
- Type
- Deletion
- Location
- chr6:143471576 (GRCh38)
- Gene constraint
- LOEUF 0.972 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 88.94 · 2 PDB
- Residue 182
- an α-helix
Similar variants
- PEX3 p.Val182Ile Uncertain significance ★★ ⚠ same residue
- PEX3 p.Ser98fs Pathogenic/Likely pathogenic ★★ same type
- PEX3 c.1039-6del Likely benign ★★ same type
- PEX3 c.206-14del Benign ★★ same type
- PEX3 p.Leu76fs Pathogenic ★ same type
- PEX3 p.Met1fs Likely pathogenic ★ same type
- PEX3 p.Met270fs Pathogenic ★ same type
- PEX3 p.Pro158fs Likely 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/pex3-p-val182fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown