AARS1 p.Val283=
c.849T>C · rs773866431 · VCV220481
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0121%, nfe)
Conditions
2
Inborn genetic diseases
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 -0.17 | GERP -3.4, phastCons 0.003 |
| Overall | ||
| CADD | 5.999 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0121%
European (non-Finnish) · 143/1,180,042 alleles
Filtering AF
0.0105%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00981%
Overall
0.00911%
147/1,614,044 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0121% | 8,252 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,622 |
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
- AARS1
- Protein
- p.Val283=
- Coding
- c.849T>C
- MANE Select
- NM_001605
- dbSNP
- rs773866431
- Type
- single nucleotide variant
- Location
- chr16:70269731 (GRCh38)
- Gene constraint
- LOEUF 0.772 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 90.66 · 10 PDB
Similar variants
- AARS1 p.Val283Ala Uncertain significance ★★ ⚠ same residue
- AARS1 c.2177+1G>A Pathogenic/Likely pathogenic ★★ same condition
- AARS1 p.Arg13Ter Pathogenic ★★ same condition
- AARS1 p.Arg246Ter Pathogenic/Likely pathogenic ★★ same condition
- AARS1 p.Arg329Cys Likely pathogenic ★★ same condition
- AARS1 p.Arg329His Pathogenic/Likely pathogenic ★★ same condition
- AARS1 p.Arg330Ter Pathogenic/Likely pathogenic ★★ same condition
- AARS1 p.Arg333Ter 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/aars1-p-val283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown