AP4M1 p.Phe6fs
c.14dup · VCV4852632
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 1 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP -2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AP4M1
- Protein
- p.Phe6fs
- Coding
- c.14dup
- MANE Select
- NM_004722
- Type
- Duplication
- Location
- chr7:100101726 (GRCh38)
- Gene constraint
- LOEUF 1.106 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.16 · 6 PDB
Similar variants
- AP4M1 p.Asn73fs Pathogenic ★★ same type
- AP4M1 c.974+2dup Pathogenic ★ same type
- AP4M1 p.Arg441fs Pathogenic ★ same type
- AP4M1 p.Asp118fs Pathogenic ★ same type
- AP4M1 p.Asp288fs Pathogenic ★ same type
- AP4M1 c.1025+2dup Uncertain significance ★ same type
- AP4M1 c.974+115dup Uncertain significance ★ same type
- AP4M1 p.Pro389_Ser390insGlyProPro 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/ap4m1-p-phe6fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown