ACADSB p.Tyr199=
c.597T>C · rs750729020 · VCV3030842
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00254%, nfe)
Conditions
1
ACADSB-related disorder
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 -5.3 | GERP -5.1 |
| Overall | ||
| CADD | 0.356 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00254%
European (non-Finnish) · 30/1,180,026 alleles
Filtering AF
0.0018%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00156%
Overall
0.00192%
31/1,614,116 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00254% | 39,334 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
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
- ACADSB
- Protein
- p.Tyr199=
- Coding
- c.597T>C
- MANE Select
- NM_001609
- dbSNP
- rs750729020
- Type
- single nucleotide variant
- Location
- chr10:123041295 (GRCh38)
- Gene constraint
- LOEUF 0.891 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.47 · 1 PDB
- Residue 199
- a β-strand
Disease context
ACADSB-related disorder
Similar variants
- ACADSB p.Tyr199Cys Likely pathogenic ★ ⚠ same residue
- ACADSB c.303+3A>G Pathogenic/Likely pathogenic ★★ same condition
- ACADSB p.Glu387Lys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ACADSB p.Trp207Ter Pathogenic/Likely pathogenic ★★ same condition
- ACADSB p.Tyr351Ter Likely pathogenic ★★ same condition
- ACADSB c.303+1G>A Conflicting classifications of pathogenicity ★ same condition
- ACADSB p.Asn147Tyr Conflicting classifications of pathogenicity ★ ⚠ same condition
- ACADSB p.Glu126Gln Uncertain significance ★ ⚠ 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/acadsb-p-tyr199 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown