ACACB p.Pro343=
c.1029C>T · rs147020981 · VCV733375
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.536%, sas)
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 -20 | GERP -4.1 |
| Overall | ||
| CADD | 2.014 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.536%
South Asian · 488/91,070 alleles
Filtering AF
0.497%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.481%
Overall
0.0971%
1,566/1,613,588 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.536% | 187 |
| African / African-American | 0.255% | 393 |
| Middle Eastern | 0.0825% | 1,212 |
| Remaining individualsnot grpmax-eligible | 0.0816% | 1,225 |
| European (non-Finnish) | 0.0668% | 1,497 |
| Finnishnot grpmax-eligible | 0.0344% | 2,910 |
| Admixed American | 0.03% | 3,334 |
| East Asian | 0.00446% | 22,435 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,602 |
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.Pro343=
- Coding
- c.1029C>T
- MANE Select
- NM_001093
- dbSNP
- rs147020981
- Type
- single nucleotide variant
- Location
- chr12:109171908 (GRCh38)
- Gene constraint
- LOEUF 0.843 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.29 · 11 PDB
- Residue 343
- the biotin carboxylation domain
Similar variants
- 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
- ACACB p.Gln1257Glu 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-pro343 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown