AIP p.Arg16fs
c.46del · VCV3649265
Pathogenic
Single submitter
Classification
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 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP -1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AIP
- Protein
- p.Arg16fs
- Coding
- c.46del
- MANE Select
- NM_003977
- Type
- Deletion
- Location
- chr11:67483204 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 91.09 · 5 PDB
- Residue 16
- a β-strand; a UniProt-annotated variant site (in)
Similar variants
- AIP p.Arg16Cys Uncertain significance ★★ ⚠ same residue
- AIP p.Arg16His Conflicting classifications of pathogenicity ★ ⚠ same residue
- AIP p.Arg16= Likely benign ★ same residue
- AIP p.Gln239fs Pathogenic ★★ same type
- AIP p.Lys273fs Pathogenic ★★ same type
- AIP p.Pro167_Trp168insTer Pathogenic/Likely pathogenic ★★ same type
- AIP p.Arg325fs Uncertain significance ★★ same type
- AIP p.Asn264del 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/aip-p-arg16fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown