FOXF1 p.Arg115=
c.343C>A · VCV4874732
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 2.1, phastCons 1 |
| Overall | ||
| CADD | 13.35 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/59,982 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.000248%
4/1,613,696 alleles · very rare
exomes 3/1,461,556 · genomes 1/152,140 · joint denominator
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
- FOXF1
- Protein
- p.Arg115=
- Coding
- c.343C>A
- MANE Select
- NM_001451
- Type
- single nucleotide variant
- Location
- chr16:86510912 (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI 0.43 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.41
- Residue 115
- a DNA-binding region; a UniProt-annotated variant site (in acdmpv)
Similar variants
- FOXF1 p.Gln90Ter Pathogenic ★★ same type
- FOXF1 p.Glu104Ter Pathogenic ★★ same type
- FOXF1 p.Leu56Val Likely pathogenic ★★ same type
- FOXF1 p.Ser223Ter Pathogenic ★★ same type
- FOXF1 p.His357Leu Uncertain significance ★★ ⚠ same type
- FOXF1 p.Met257Ile Uncertain significance ★★ ⚠ same type
- FOXF1 p.Pro110Ala Uncertain significance ★★ ⚠ same type
- FOXF1 p.Pro11Gln 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/foxf1-p-arg115 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown