DDX41 p.Arg22fs
c.64del · VCV3659550
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 2 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.83, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DDX41
- Protein
- p.Arg22fs
- Coding
- c.64del
- MANE Select
- NM_016222
- Type
- Deletion
- Location
- chr5:177516799 (GRCh38)
- Gene constraint
- LOEUF 0.768 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.38 · 5 PDB
- Residue 22
- the 'disordered' region
Similar variants
- DDX41 p.Arg22His Uncertain significance ★★ ⚠ same residue
- DDX41 p.Arg22Leu Uncertain significance ★ ⚠ same residue
- DDX41 p.Arg22= Likely benign ★ same residue
- DDX41 p.Glu268fs Pathogenic/Likely pathogenic ★★ same type
- DDX41 p.Glu60fs Pathogenic/Likely pathogenic ★★ same type
- DDX41 p.Gly465fs Pathogenic ★★ same type
- DDX41 p.Ile209fs Pathogenic ★★ same type
- DDX41 p.Leu283fs Pathogenic/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/ddx41-p-arg22fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown