PEX1 p.Ala311fs
c.930_931del · VCV3594945
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
Heimler syndrome 1
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 5 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 10 | GERP 1.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PEX1
- Protein
- p.Ala311fs
- Coding
- c.930_931del
- MANE Select
- NM_000466
- Type
- Microsatellite
- Location
- chr7:92517584 (GRCh38)
- Gene constraint
- LOEUF 0.746 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.19
Similar variants
- PEX1 c.1671_1672del Pathogenic ★★ same condition
- PEX1 p.Arg798fs Pathogenic/Likely pathogenic ★★ same condition
- PEX1 p.Gln1231fs Pathogenic ★★ same condition
- PEX1 p.His572fs Pathogenic ★★ same condition
- PEX1 p.His678fs Pathogenic ★★ same condition
- PEX1 p.Leu1024fs Pathogenic/Likely pathogenic ★★ same condition
- PEX1 p.Leu1051fs Pathogenic/Likely pathogenic ★★ same condition
- PEX1 p.Leu501fs 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/pex1-p-ala311fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown