CDX4 p.Thr167=
c.501G>C · VCV3772274
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -8 | GERP -1.5 |
| Overall | ||
| CADD | 0.241 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CDX4
- Protein
- p.Thr167=
- Coding
- c.501G>C
- MANE Select
- NM_005193
- Type
- single nucleotide variant
- Location
- chrX:73447754 (GRCh38)
- Structure
- AlphaFold pLDDT 63.87
Similar variants
- CDX4 p.Ala106Ser Uncertain significance ★ ⚠ same type
- CDX4 p.Ala207Thr Uncertain significance ★ ⚠ same type
- CDX4 p.Ala226Gly Uncertain significance ★ ⚠ same type
- CDX4 p.Arg161Gly Uncertain significance ★ ⚠ same type
- CDX4 p.Arg177His Uncertain significance ★ ⚠ same type
- CDX4 p.Arg215Lys Uncertain significance ★ ⚠ same type
- CDX4 p.Arg215Thr Uncertain significance ★ ⚠ same type
- CDX4 p.Arg270Cys 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/cdx4-p-thr167 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown