AIMP1 p.Val181=
c.543C>T · rs769213770 · VCV729494
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0133%, amr)
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 0.27 | GERP -5.1, phastCons 0.99 |
| Overall | ||
| CADD | 8.408 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0133%
Admixed American · 8/60,002 alleles
Filtering AF
0.00661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00482%
Overall
0.00446%
72/1,613,954 alleles · ultra-rare
exomes 63/1,461,804 · genomes 9/152,150 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0133% | 7,500 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,622 |
| European (non-Finnish) | 0.00458% | 21,852 |
| African / African-American | 0.00401% | 24,969 |
| Finnishnot grpmax-eligible | 0.00312% | 32,010 |
| East Asian | 0.00223% | 44,882 |
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
- AIMP1
- Protein
- p.Val181=
- Coding
- c.543C>T
- MANE Select
- NM_001142416
- dbSNP
- rs769213770
- Type
- single nucleotide variant
- Location
- chr4:106331823 (GRCh38)
- Gene constraint
- LOEUF 0.931 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 81.68 · 6 PDB
- Residue 181
- the trna-binding domain; the 'interaction with hsp90b1' region; the 'required for endothelial cell migration' region
Similar variants
- AIMP1 p.Gln112Ter Pathogenic ★★ same type
- AIMP1 p.Gln39Ter Pathogenic/Likely pathogenic ★★ same type
- AIMP1 c.773-2A>C Uncertain significance ★★ same type
- AIMP1 p.Arg49Gln Uncertain significance ★★ ⚠ same type
- AIMP1 p.Asn89Ser Uncertain significance ★★ ⚠ same type
- AIMP1 p.Asp146Asn Uncertain significance ★★ ⚠ same type
- AIMP1 p.Glu120Gly Uncertain significance ★★ ⚠ same type
- AIMP1 p.Glu23Asp 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/aimp1-p-val181 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown