FOXE1 p.Pro243=
c.729C>G · VCV3352146
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,395,770)
Conditions
1
FOXE1-related disorder
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 -2.5 | GERP -3.7 |
| Overall | ||
| CADD | 5.451 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,395,770). 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
- FOXE1
- Protein
- p.Pro243=
- Coding
- c.729C>G
- MANE Select
- NM_004473
- Type
- single nucleotide variant
- Location
- chr9:97854643 (GRCh38)
- Gene constraint
- LOEUF 1.926 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 62.02
Disease context
FOXE1-related disorder
Similar variants
- FOXE1 p.Asp109Val Likely pathogenic same condition
- FOXE1 p.Gly364Ser Uncertain significance ⚠ same condition
- FOXE1 p.Ala216= Likely benign same condition
- FOXE1 p.Ala179_Ile180insAlaAla Likely benign same condition
- FOXE1 p.Ala118Val Uncertain significance ★★ ⚠ same type
- FOXE1 p.Ala206Thr Uncertain significance ★★ ⚠ same type
- FOXE1 p.Arg51Gly Uncertain significance ★★ ⚠ same type
- FOXE1 p.Gly334Ala 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/foxe1-p-pro243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown