STAT3 p.Pro535Phe
c.1603_1604delinsTT · VCV4082518
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 12 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.39 | unconstrained · MANE · 25 kb · p 2.4e-61 · regional, not allelic |
Variant & gene context
- Gene
- STAT3
- Protein
- p.Pro535Phe
- Coding
- c.1603_1604delinsTT
- MANE Select
- NM_139276
- Type
- Indel
- Location
- chr17:42323622 (GRCh38)
- Gene constraint
- LOEUF 0.109 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.80 · 6 PDB
Similar variants
- STAT3 p.Lys615_Gly617delinsGluArg Likely pathogenic ★ same type
- STAT3 p.Tyr657Gln Likely pathogenic ★ same type
- STAT3 c.1600+5_1600+6delinsTT Uncertain significance ★ same type
- STAT3 p.Asn647Ile Uncertain significance ★ same type
- STAT3 p.Thr663Leu Uncertain significance ★ 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/stat3-p-pro535phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown