GATA2 p.Pro5Arg
c.14_15inv · VCV1309015
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
Conditions
3
Inborn genetic diseases
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 -6.5 | GERP -2.3 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 1,299 bp · p 0.69 · regional, not allelic |
Variant & gene context
- Gene
- GATA2
- Protein
- p.Pro5Arg
- Coding
- c.14_15inv
- MANE Select
- NM_032638
- Type
- Inversion
- Location
- chr3:128487017 (GRCh38)
- Gene constraint
- LOEUF 0.335 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.11 · 2 PDB
Similar variants
- GATA2 p.Pro5Leu Uncertain significance ★ same residue
- GATA2 p.Pro5= Likely benign ★ same residue
- GATA2 p.Trp10Gly Uncertain significance ★★ same condition
- GATA2 c.1017+572C>T Pathogenic/Likely pathogenic ★★ same condition
- GATA2 c.1018-1G>T Pathogenic/Likely pathogenic ★★ same condition
- GATA2 c.1018-2A>G Pathogenic/Likely pathogenic ★★ same condition
- GATA2 c.1018-2A>T Pathogenic ★★ same condition
- GATA2 c.1143+2T>A Pathogenic/Likely pathogenic ★★ 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/gata2-p-pro5arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown