ALK p.Arg209Ile
c.625_627delinsATT · VCV4723421
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
neuroblastoma, susceptibility to, 3
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 -3.6 | GERP -3.5 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 670 kb · p 0.12 · regional, not allelic |
Variant & gene context
- Gene
- ALK
- Protein
- p.Arg209Ile
- Coding
- c.625_627delinsATT
- MANE Select
- NM_004304
- Type
- Indel
- Location
- chr2:29920033 (GRCh38)
- Gene constraint
- LOEUF 0.562 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 68.26 · 79 PDB
Similar variants
- ALK p.Arg209Cys Uncertain significance ★★ ⚠ same residue
- ALK p.Arg209Gly Uncertain significance ★★ ⚠ same residue
- ALK p.Arg209= Likely benign ★★ same residue
- ALK c.4165-6_4165-5delinsTA Uncertain significance ★★ same condition
- ALK p.Glu1161Thr Uncertain significance ★★ same condition
- ALK p.Glu1558Val Uncertain significance ★★ same condition
- ALK p.Leu9_Leu10= Likely benign ★★ same condition
- ALK c.1155-4_1155-3delinsAA Uncertain significance ★ same condition
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/alk-p-arg209ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown