PEX13 p.Phe71fs
c.213del · VCV3649968
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
peroxisome biogenesis disorder 11A (Zellweger)
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 2 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PEX13
- Protein
- p.Phe71fs
- Coding
- c.213del
- MANE Select
- NM_002618
- Type
- Deletion
- Location
- chr2:61031536 (GRCh38)
- Gene constraint
- LOEUF 1.159 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.62 · 3 PDB
Similar variants
- PEX13 p.Arg50fs Pathogenic ★ same condition
- PEX13 p.Gly36fs Likely pathogenic ★ same condition
- PEX13 p.His167fs Pathogenic ★ same condition
- PEX13 p.Ile291fs Pathogenic ★ same condition
- PEX13 p.Leu254fs Pathogenic ★ same condition
- PEX13 p.Lys10fs Pathogenic ★ same condition
- PEX13 p.Met198fs Pathogenic ★ same condition
- PEX13 p.Pro54fs 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/pex13-p-phe71fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown