FOXG1 p.Pro85=
c.255C>G · VCV3389287
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 9.25e-05%)
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 -0.17 | GERP -2.4, phastCons 0.081 |
| Overall | ||
| CADD | 12.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.25e-05%
Overall
9.25e-05%
1/1,081,448 alleles · very rare
exomes 1/933,926 · genomes 0/147,522 · 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
- FOXG1
- Protein
- p.Pro85=
- Coding
- c.255C>G
- MANE Select
- NM_005249
- Type
- single nucleotide variant
- Location
- chr14:28767534 (GRCh38)
- Gene constraint
- LOEUF 0.36 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.79 · 1 PDB
- Residue 85
- the 'disordered' region
Similar variants
- FOXG1 p.Pro85Arg Uncertain significance ★ ⚠ same residue
- FOXG1 p.Pro85Leu Uncertain significance ★ ⚠ same residue
- FOXG1 p.Pro85Ser Uncertain significance ★ ⚠ same residue
- FOXG1 p.Arg230Leu Likely pathogenic ★★★ same type
- FOXG1 p.Asn187Lys Pathogenic ★★★ same type
- FOXG1 p.Asn236Asp Likely pathogenic ★★★ same type
- FOXG1 p.Gly224Ser Likely pathogenic ★★★ same type
- FOXG1 p.Gly250Ser 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/foxg1-p-pro85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown