DDX3X p.Arg113fs
c.338_339del · VCV3336878
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.45 | GERP -4.5, phastCons 0.04 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DDX3X
- Protein
- p.Arg113fs
- Coding
- c.338_339del
- MANE Select
- NM_001356
- Type
- Deletion
- Location
- chrX:41342547 (GRCh38)
- Structure
- AlphaFold pLDDT 73.24 · 17 PDB
- Residue 113
- the 'required for tbk1 and ikbke-dependent ifnb1 activation' region; the 'disordered' region; the 'involved in binding to rna g-quadruplex' region; the 'interaction with gsk3b' region
Similar variants
- DDX3X c.1071_1170+24del Pathogenic/Likely pathogenic ★★ same type
- DDX3X c.543+3_543+6del Likely pathogenic ★★ same type
- DDX3X p.Asn124fs Pathogenic ★★ same type
- DDX3X p.Asp135fs Pathogenic ★★ same type
- DDX3X p.His512fs Pathogenic ★★ same type
- DDX3X p.Lys418fs Pathogenic ★★ same type
- DDX3X p.Phe85fs Pathogenic ★★ same type
- DDX3X p.Ser152fs 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/ddx3x-p-arg113fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown