WT1 p.Arg375Pro
c.1122_1124delinsGCC · VCV3982437
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
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 7.7 | GERP 2.7, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 39 kb · p 0.077 · regional, not allelic |
Variant & gene context
- Gene
- WT1
- Protein
- p.Arg375Pro
- Coding
- c.1122_1124delinsGCC
- MANE Select
- NM_024426
- Type
- Indel
- Location
- chr11:32396397 (GRCh38)
- Gene constraint
- LOEUF 0.253 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 52.09 · 31 PDB
- Residue 375
- the 'important for interaction with target dna' region; an α-helix
Similar variants
- WT1 p.Arg375= Likely benign ★ same residue
- WT1 p.Arg375His Conflicting classifications of pathogenicity ★ same residue
- WT1 p.Arg375Tyr Uncertain significance ★ same residue
- WT1 p.Arg375Cys Uncertain significance ★★ same residue
- WT1 p.Arg375Leu Uncertain significance ★★ same residue
- WT1 p.Arg375fs Pathogenic ★ same residue
- WT1 c.1016+4A>C Uncertain significance ★★ same condition
- WT1 c.1113+5G>A 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/wt1-p-arg375pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown