AIP p.Pro114Phe
c.340_341delinsTT · VCV4843342
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 6 | GERP 0.84, phastCons 1 |
Variant & gene context
- Gene
- AIP
- Protein
- p.Pro114Phe
- Coding
- c.340_341delinsTT
- MANE Select
- NM_003977
- Type
- Indel
- Location
- chr11:67489327 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 91.09 · 5 PDB
- Residue 114
- the ppiase fkbp-type domain; a turn
Similar variants
- AIP p.Pro114His Uncertain significance ★★ ⚠ same residue
- AIP p.Pro114Ser Uncertain significance ★★ ⚠ same residue
- AIP p.Pro114Leu Uncertain significance ★ ⚠ same residue
- AIP p.Pro114Thr Uncertain significance ★ ⚠ same residue
- AIP p.Asp172fs Pathogenic ★ same condition
- AIP p.Gln228Arg Uncertain significance ★ same condition
- AIP p.Gln228Lys Likely benign ★ same condition
- AIP p.Arg271Trp Pathogenic/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-pro114phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown