ACACB p.Val531=
c.1593T>G · rs11065765 · VCV720486
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.2%, afr)
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 -16 | GERP -4.2 |
| Overall | ||
| CADD | 0.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.2%
African / African-American · 2,401/75,032 alleles
Filtering AF
3.09%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.05%
Overall
0.17%
2,750/1,613,960 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.2% | 31 |
| Middle Eastern | 0.479% | 209 |
| Remaining individualsnot grpmax-eligible | 0.195% | 512 |
| Admixed American | 0.16% | 625 |
| South Asian | 0.0143% | 7,004 |
| European (non-Finnish) | 0.00746% | 13,409 |
| East Asian | 0.00223% | 44,874 |
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
- ACACB
- Protein
- p.Val531=
- Coding
- c.1593T>G
- MANE Select
- NM_001093
- dbSNP
- rs11065765
- Type
- single nucleotide variant
- Location
- chr12:109179243 (GRCh38)
- Gene constraint
- LOEUF 0.843 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.29 · 11 PDB
- Residue 531
- the biotin carboxylation domain; the atp-grasp domain; a β-strand
Similar variants
- ACACB p.Val531Ile Likely benign ★ same residue
- ACACB p.Val958Met Uncertain significance ★★ ⚠ same type
- ACACB c.6942+9C>T Benign ★★ same type
- ACACB c.6943-8G>A Benign ★★ same type
- ACACB c.7113+7C>T Benign/Likely benign ★★ same type
- ACACB p.Ala650= Likely benign ★★ same type
- ACACB p.Arg1786Gln Likely benign ★★ same type
- ACACB p.Asp1481Val Benign/Likely benign ★★ 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/acacb-p-val531 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown