ACADS p.Phe261=
c.783C>T · rs565422072 · VCV703026
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0802%, eas)
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 3.8 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 13.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0802%
East Asian · 36/44,868 alleles
Filtering AF
0.0595%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0524%
Overall
0.00236%
38/1,610,898 alleles · ultra-rare
exomes 29/1,458,600 · genomes 9/152,298 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0802% | 1,246 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,242 |
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.Phe261=
- Coding
- c.783C>T
- MANE Select
- NM_000017
- dbSNP
- rs565422072
- Type
- single nucleotide variant
- Location
- chr12:120738438 (GRCh38)
- Gene constraint
- LOEUF 0.852 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.58 · 4 PDB
- Residue 261
- an α-helix
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-phe261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown