FFAR4 p.Val38=
c.114G>A · rs139357642 · VCV2640700
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.349%, 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 2.1 | GERP 2.3, phastCons 1 |
| Overall | ||
| CADD | 5.152 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.349%
European (non-Finnish) · 4,106/1,175,644 alleles
Filtering AF
0.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.337%
Overall
0.287%
4,600/1,601,242 alleles · rare
exomes 4,242/1,448,902 · genomes 358/152,340 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.349% | 286 |
| Finnishnot grpmax-eligible | 0.308% | 325 |
| Ashkenazi Jewishnot grpmax-eligible | 0.252% | 397 |
| Remaining individualsnot grpmax-eligible | 0.2% | 500 |
| Admixed American | 0.122% | 821 |
| African / African-American | 0.0401% | 2,491 |
| Middle Eastern | 0.0331% | 3,025 |
| South Asian | 0.00893% | 11,194 |
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.Val38=
- Coding
- c.114G>A
- MANE Select
- NM_001195755
- dbSNP
- rs139357642
- Type
- single nucleotide variant
- Location
- chr10:93566834 (GRCh38)
- Gene constraint
- LOEUF 1.035 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.16 · 16 PDB
- Residue 38
- a turn
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-val38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown