Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 26.5%, sas) — too common for a highly-penetrant pathogenic allele
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 -4.2 | GERP -3.7 |
| Overall | ||
| CADD | 1.985 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
26.5%
South Asian · 23,892/90,238 alleles
Filtering AF
26.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 26.1%
Overall
20.1%
319,820/1,591,924 alleles · common
exomes 294,645/1,442,068 · genomes 25,175/149,856 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 26.5% | 4 |
| Admixed American | 20.9% | 5 |
| European (non-Finnish) | 20.8% | 5 |
| Finnishnot grpmax-eligible | 20.8% | 5 |
| Remaining individualsnot grpmax-eligible | 19.9% | 5 |
| Ashkenazi Jewishnot grpmax-eligible | 19.8% | 5 |
| Amishnot grpmax-eligible | 19.7% | 5 |
| Middle Eastern | 19.5% | 5 |
| African / African-American | 7.97% | 13 |
| East Asian | 7.19% | 14 |
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
- FFAR3
- Protein
- p.Ala256=
- Coding
- c.768G>A
- MANE Select
- NM_005304
- dbSNP
- rs375946
- Type
- single nucleotide variant
- Location
- chr19:35359658 (GRCh38)
- Gene constraint
- LOEUF 1.874 · pLI 0.31 (gnomAD)
- Structure
- AlphaFold pLDDT 86.90 · 2 PDB
- Residue 256
- a UniProt-annotated variant site (in)
Similar variants
- FFAR3 p.Arg45His Benign ★★ same type
- FFAR3 p.Met307Val Benign ★★ same type
- FFAR3 p.Ser201= Likely benign ★★ same type
- FFAR3 p.Ala103Thr Uncertain significance ★ ⚠ same type
- FFAR3 p.Ala224Val Uncertain significance ★ ⚠ same type
- FFAR3 p.Ala228Glu Uncertain significance ★ ⚠ same type
- FFAR3 p.Ala285Asp Uncertain significance ★ ⚠ same type
- FFAR3 p.Ala320Val 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/ffar3-p-ala256 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown