AIP p.Asp52del
c.151GAC[1] · VCV3279563
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2 | GERP -2.4, phastCons 1 |
Variant & gene context
- Gene
- AIP
- Protein
- p.Asp52del
- Coding
- c.151GAC[1]
- MANE Select
- NM_003977
- Type
- Microsatellite
- Location
- chr11:67487057 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 91.09 · 5 PDB
- Residue 52
- the ppiase fkbp-type domain; a β-strand; a UniProt-annotated variant site (in pita1; uncertain significance)
Similar variants
- AIP p.Asp52Asn Uncertain significance ★★ ⚠ same residue
- AIP p.Asp52Gly Uncertain significance ★★ ⚠ same residue
- AIP p.Asp263del Uncertain significance ★★ same condition
- AIP p.Met1del Likely pathogenic ★ same condition
- AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same condition
- AIP p.Arg304Ter Pathogenic ★★ same condition
- AIP p.Arg81Ter Pathogenic ★★ same condition
- AIP p.Cys238Tyr 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/aip-p-asp52del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown