AP4E1 p.Pro368fs
c.1103del · VCV4852645
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 10 of 21 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP 0.61, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AP4E1
- Protein
- p.Pro368fs
- Coding
- c.1103del
- MANE Select
- NM_007347
- Type
- Deletion
- Location
- chr15:50941701 (GRCh38)
- Gene constraint
- LOEUF 0.576 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.42 · 4 PDB
Similar variants
- AP4E1 p.Pro368Leu Uncertain significance ★★ ⚠ same residue
- AP4E1 c.1316+44_1316+54del Benign ★★ same type
- AP4E1 p.Glu739fs Pathogenic ★ same type
- AP4E1 p.His887fs Pathogenic ★ same type
- AP4E1 p.Leu110fs Likely pathogenic ★ same type
- AP4E1 p.Ser121fs Pathogenic ★ same type
- AP4E1 c.1548+4del Uncertain significance ★ same type
- AP4E1 c.420+3_420+9del 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/ap4e1-p-pro368fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown