ACAT2 p.Ala195=
c.585T>G · rs41292466 · VCV781017
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.9%, 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 -9.3 | GERP -3.2 |
| Overall | ||
| CADD | 1.98 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.9%
African / African-American · 1,424/75,062 alleles
Filtering AF
1.82%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.78%
Overall
0.101%
1,633/1,614,202 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.9% | 53 |
| Remaining individualsnot grpmax-eligible | 0.149% | 672 |
| Admixed American | 0.132% | 760 |
| Middle Eastern | 0.066% | 1,516 |
| Finnishnot grpmax-eligible | 0.00312% | 32,023 |
| European (non-Finnish) | 0.00246% | 40,690 |
| South Asian | 0.0022% | 45,540 |
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
- ACAT2
- Protein
- p.Ala195=
- Coding
- c.585T>G
- MANE Select
- NM_003578 · reported on NM_005891
- dbSNP
- rs41292466
- Type
- single nucleotide variant
- Location
- chr6:159775264 (GRCh38)
- Structure
- AlphaFold pLDDT 82.59 · 2 PDB
Similar variants
- SOAT2 p.Ala67= Benign ★★ same type
- SOAT2 p.Leu402= Benign ★★ same type
- ACAT2 p.Ala230Pro Uncertain significance ★ ⚠ same type
- ACAT2 p.Ala323Gly Uncertain significance ★ ⚠ same type
- ACAT2 p.Ala330Val Uncertain significance ★ ⚠ same type
- ACAT2 p.Ala348Ser Uncertain significance ★ ⚠ same type
- ACAT2 p.Ala357Gly Uncertain significance ★ ⚠ same type
- ACAT2 p.Arg223His Uncertain significance ★ ⚠ 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/acat2-p-ala195 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown