AP2M1 p.Phe265fs
c.792del · rs2473725328 · VCV2853345
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.9 | GERP 0.7, 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
- AP2M1
- Protein
- p.Phe265fs
- Coding
- c.792del
- MANE Select
- NM_004068
- dbSNP
- rs2473725328
- Type
- Deletion
- Location
- chr3:184181780 (GRCh38)
- Gene constraint
- LOEUF 0.182 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 89.44 · 3 PDB
- Residue 265
- the mhd domain; a β-strand
Similar variants
- AP2M1 c.430-7del Likely benign ★★ same type
- AP2M1 c.58_74+7del Uncertain significance ★ same type
- AP2M1 p.Asn9fs Uncertain significance ★ same type
- AP2M1 c.74+11_74+17del Likely benign ★ same type
- AP2M1 c.963+18_963+20del Likely benign ★ same type
- AP2M1 c.963+9_963+10del Likely benign ★ same type
- AP2M1 c.*5del Likely benign ★ 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/ap2m1-p-phe265fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown