AP4M1 p.Glu31fs
c.90del · rs2116616864 · VCV1344792
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 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.7 | GERP 1.1, 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
- AP4M1
- Protein
- p.Glu31fs
- Coding
- c.90del
- MANE Select
- NM_004722
- dbSNP
- rs2116616864
- Type
- Deletion
- Location
- chr7:100101910 (GRCh38)
- Gene constraint
- LOEUF 1.106 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.16 · 6 PDB
Similar variants
- AP4M1 p.Glu31= Likely benign ★★ same residue
- AP4M1 p.Glu31Val Uncertain significance ★ ⚠ same residue
- AP4M1 p.Glu232fs Likely pathogenic same condition
- AP4M1 p.Asp118fs Pathogenic ★ same condition
- AP4M1 c.1026-1G>T Likely pathogenic same condition
- AP4M1 c.974+1G>T Likely pathogenic same condition
- AP4M1 p.Arg227His Likely pathogenic ⚠ same condition
- AP4M1 p.Leu175fs 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/ap4m1-p-glu31fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown