FFAR3 p.Ser201=
c.603C>T · rs145113005 · VCV774735
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.932%, nfe)
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 0.22 | GERP -0.42, phastCons 0.055 |
| Overall | ||
| CADD | 11.13 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.932%
European (non-Finnish) · 10,983/1,178,106 alleles
Filtering AF
0.918%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.912%
Overall
0.761%
12,267/1,611,840 alleles · rare
exomes 11,427/1,459,708 · genomes 840/152,132 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.932% | 107 |
| Remaining individualsnot grpmax-eligible | 0.658% | 152 |
| Admixed American | 0.577% | 173 |
| Finnishnot grpmax-eligible | 0.489% | 205 |
| Ashkenazi Jewishnot grpmax-eligible | 0.193% | 519 |
| African / African-American | 0.189% | 528 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| Middle Eastern | 0.0991% | 1,009 |
| South Asian | 0.00879% | 11,382 |
| East Asian | 0.00223% | 44,894 |
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.Ser201=
- Coding
- c.603C>T
- MANE Select
- NM_005304
- dbSNP
- rs145113005
- Type
- single nucleotide variant
- Location
- chr19:35359493 (GRCh38)
- Gene constraint
- LOEUF 1.874 · pLI 0.31 (gnomAD)
- Structure
- AlphaFold pLDDT 86.90 · 2 PDB
- Residue 201
- an α-helix
Similar variants
- FFAR3 p.Ala256= Likely benign ★★ same type
- FFAR3 p.Arg45His Benign ★★ same type
- FFAR3 p.Met307Val 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-ser201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown