ACAD8 p.Ala81=
c.243A>C · rs1591506881 · VCV754168
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
isobutyryl-CoA dehydrogenase deficiency
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 0.003 | GERP -1.4, phastCons 0.04 |
| Overall | ||
| CADD | 6.319 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ACAD8
- Protein
- p.Ala81=
- Coding
- c.243A>C
- MANE Select
- NM_014384
- dbSNP
- rs1591506881
- Type
- single nucleotide variant
- Location
- chr11:134257120 (GRCh38)
- Gene constraint
- LOEUF 1.11 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.19 · 1 PDB
- Residue 81
- an α-helix
Disease context
isobutyryl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Isobutyryl-CoA dehydrogenase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ACAD8 p.Arg206Ter Pathogenic ★★ same condition
- ACAD8 p.Arg296Ter Pathogenic ★★ same condition
- ACAD8 p.Gly377Ser Pathogenic/Likely pathogenic ★★ same condition
- ACAD8 p.Gly96Ser Pathogenic ★★ ⚠ same condition
- ACAD8 p.Met128Ile Pathogenic/Likely pathogenic ★★ same condition
- ACAD8 p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
- ACAD8 c.841+6A>C Uncertain significance ★★ same condition
- ACAD8 c.940-13C>G 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/acad8-p-ala81 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown