FOXP3 p.Val79=
c.237G>T · VCV4950723
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,173,367)
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 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 10.22 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,173,367). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FOXP3
- Protein
- p.Val79=
- Coding
- c.237G>T
- MANE Select
- NM_014009
- Type
- single nucleotide variant
- Location
- chrX:49257742 (GRCh38)
- Structure
- AlphaFold pLDDT 58.29 · 2 PDB
Similar variants
- FOXP3 c.454+4A>G Likely pathogenic ★★ same type
- FOXP3 c.543-2A>G Likely pathogenic ★★ same type
- FOXP3 p.Ala384Thr Pathogenic/Likely pathogenic ★★ same type
- FOXP3 p.Arg386Cys Likely pathogenic ★★ same type
- FOXP3 p.Arg397Gln Pathogenic/Likely pathogenic ★★ same type
- FOXP3 p.Arg397Trp Pathogenic ★★ same type
- FOXP3 p.Ile363Val Pathogenic ★★ same type
- FOXP3 p.Met370Val Likely pathogenic ★★ ⚠ 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/foxp3-p-val79 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown