DDX3X p.Pro142del
c.421CCA[1] · VCV4879414
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
intellectual disability, X-linked 102
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 -1.2 | GERP -2.1 |
Variant & gene context
- Gene
- DDX3X
- Protein
- p.Pro142del
- Coding
- c.421CCA[1]
- MANE Select
- NM_001356
- Type
- Microsatellite
- Location
- chrX:41342631 (GRCh38)
- Structure
- AlphaFold pLDDT 73.24 · 17 PDB
- Residue 142
- the 'interaction with chuk' region; an α-helix; the 'disordered' region; the 'interaction with gsk3b' region
Similar variants
- DDX3X p.Leu560del Pathogenic/Likely pathogenic ★★ same condition
- DDX3X p.Phe402del Pathogenic/Likely pathogenic ★★ same condition
- DDX3X p.Pro41del Pathogenic/Likely pathogenic ★★ same condition
- DDX3X p.Phe85del Uncertain significance ★★ same condition
- DDX3X p.Asn174fs Likely pathogenic ★ same condition
- DDX3X p.Lys35fs Pathogenic ★ same condition
- DDX3X c.103+4_103+7del Uncertain significance ★ same condition
- DDX3X p.Pro142= Conflicting classifications of pathogenicity ★ same residue
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/ddx3x-p-pro142del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown