AIP p.Arg22=
c.64C>A · rs121908357 · VCV1753891
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
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 · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 0.88, phastCons 0.99 |
| Overall | ||
| CADD | 14.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,938 alleles
Overall
0.000657%
1/152,208 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- AIP
- Protein
- p.Arg22=
- Coding
- c.64C>A
- MANE Select
- NM_003977
- dbSNP
- rs121908357
- Type
- single nucleotide variant
- Location
- chr11:67483222 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 91.09 · 5 PDB
Similar variants
- AIP p.Arg22Gln Uncertain significance ★★ ⚠ same residue
- AIP p.Arg22Ter Pathogenic same residue
- 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
- AIP p.Gln126Ter Pathogenic ★★ same condition
- AIP p.Gln14Ter 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-arg22 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown