FOXE3 p.Val201=
c.603G>C · VCV4685854
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 1,319,470)
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 | GERP -3.5, phastCons 0.051 |
| Overall | ||
| CADD | 5.136 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,319,470). 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
- FOXE3
- Protein
- p.Val201=
- Coding
- c.603G>C
- MANE Select
- NM_012186
- Type
- single nucleotide variant
- Location
- chr1:47416918 (GRCh38)
- Gene constraint
- LOEUF 1.935 · pLI 0.12 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 66.68
Similar variants
- FOXE3 p.Val201Met Benign/Likely benign ★★ same residue
- FOXE3 p.Val201Ala Likely benign ★ same residue
- FOXE3 p.Ala78Thr Pathogenic/Likely pathogenic ★★ same type
- FOXE3 p.Cys240Ter Pathogenic ★★ same type
- FOXE3 p.Gly49Ter Pathogenic/Likely pathogenic ★★ same type
- FOXE3 p.Ser211Ter Pathogenic/Likely pathogenic ★★ same type
- FOXE3 p.Ala170Thr Uncertain significance ★★ ⚠ same type
- FOXE3 p.Ala189Val 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/foxe3-p-val201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown