ITK p.Pro521Ser
c.1560_1561delinsTT · VCV4082454
Uncertain significance
Single submitter
Classification
Uncertain significance
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 1.8 | GERP 0.068, phastCons 1 |
| Regional constraint | o/e 0.57 | unconstrained · MANE · 4,483 bp · p 2.1e-06 · regional, not allelic |
Variant & gene context
- Gene
- ITK
- Protein
- p.Pro521Ser
- Coding
- c.1560_1561delinsTT
- MANE Select
- NM_005546
- Type
- Indel
- Location
- chr5:157245926 (GRCh38)
- Gene constraint
- LOEUF 0.644 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.82 · 37 PDB
- Residue 521
- the protein kinase domain
Similar variants
- ITK p.Pro521= Conflicting classifications of pathogenicity ★ same residue
- ITK p.Pro521Leu Uncertain significance ★ ⚠ 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/itk-p-pro521ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown