ACADS p.Ala9=
c.27C>T · VCV4683775
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000172%, nfe)
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 2.2 | GERP 1.5, phastCons 0.94 |
| Overall | ||
| CADD | 13.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000172%
European (non-Finnish) · 2/1,160,852 alleles
Filtering AF
2.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000128%
2/1,557,032 alleles · very rare
exomes 2/1,404,896 · genomes 0/152,136 · joint denominator
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
- ACADS
- Protein
- p.Ala9=
- Coding
- c.27C>T
- MANE Select
- NM_000017
- Type
- single nucleotide variant
- Location
- chr12:120725912 (GRCh38)
- Gene constraint
- LOEUF 0.852 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.58 · 4 PDB
Similar variants
- ACADS c.211-2A>G Likely pathogenic ★★ same type
- ACADS c.625-1G>A Likely pathogenic ★★ same type
- ACADS c.795+1G>A Pathogenic/Likely pathogenic ★★ same type
- ACADS p.Ala199Val Likely pathogenic ★★ same type
- ACADS p.Arg107Cys Pathogenic ★★ same type
- ACADS p.Arg272Cys Pathogenic/Likely pathogenic ★★ same type
- ACADS p.Arg325Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- ACADS p.Arg325Trp Pathogenic/Likely pathogenic ★★ 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/acads-p-ala9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown