ALX4 c.778del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.1, phastCons 1 |
| Non-coding constraint | Z 1.92 | 1 kb window · o/e 0.86 · regional · uncalibrated |
Variant & gene context
- Gene
- ALX4
- Coding
- c.778del
- MANE Select
- NM_021926
- Type
- Deletion
- Location
- chr11:44267622 (GRCh38)
- Gene constraint
- LOEUF 0.902 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.00 · 4 PDB
Similar variants
- ALX4 p.Gly85fs Pathogenic/Likely pathogenic ★★ same type
- ALX4 p.Gln109_Gln115del Uncertain significance ★★ same type
- ALX4 p.Gly340fs Likely pathogenic ★ same type
- ALX4 p.Leu226fs Likely pathogenic ★ same type
- ALX4 p.Pro133fs Likely pathogenic ★ same type
- ALX4 c.*190del Likely benign ★ same type
- ALX4 p.Asp169fs Pathogenic same type
- ALX4 p.Cys129fs 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/alx4-c-778del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown