FFAR4 p.Ile333=
c.999T>A · rs142295722 · VCV773801
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.312%, eas)
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 -1.8 | GERP -1.6 |
| Overall | ||
| CADD | 0.673 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.312%
East Asian · 140/44,868 alleles
Filtering AF
0.27%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.254%
Overall
0.0168%
271/1,613,948 alleles · rare
exomes 216/1,461,882 · genomes 55/152,066 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.312% | 320 |
| South Asian | 0.0692% | 1,445 |
| Remaining individualsnot grpmax-eligible | 0.056% | 1,786 |
| Middle Eastern | 0.0495% | 2,020 |
| African / African-American | 0.036% | 2,777 |
| Admixed American | 0.00167% | 59,996 |
| European (non-Finnish) | 0.000169% | 589,988 |
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
- FFAR4
- Protein
- p.Ile333=
- Coding
- c.999T>A
- MANE Select
- NM_001195755
- dbSNP
- rs142295722
- Type
- single nucleotide variant
- Location
- chr10:93587522 (GRCh38)
- Gene constraint
- LOEUF 1.035 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.16 · 16 PDB
Similar variants
- RBP4 p.Gly93Asp Likely pathogenic ★★ same type
- FFAR4 c.696+2944C>T Uncertain significance ★ same type
- FFAR4 c.696+2949C>T Uncertain significance ★ same type
- FFAR4 c.696+2974T>C Uncertain significance ★ same type
- FFAR4 p.Ala131Val Uncertain significance ★ ⚠ same type
- FFAR4 p.Ala160Ser Uncertain significance ★ ⚠ same type
- FFAR4 p.Ala167Val Uncertain significance ★ ⚠ same type
- FFAR4 p.Ala315Thr 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/ffar4-p-ile333 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown