TP53 p.Glu326=
c.978A>G · rs1000256867 · VCV2578515
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
acute myeloid leukemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.096 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -4.6 |
| Overall | ||
| CADD | 6.237 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TP53
- Protein
- p.Glu326=
- Coding
- c.978A>G
- MANE Select
- NM_000546
- dbSNP
- rs1000256867
- Type
- single nucleotide variant
- Location
- chr17:7673550 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 326
- a UniProt-annotated variant site (in a sporadic cancer; somatic mutation); the 'interaction with carm1' region; the 'interaction with hipk2' region; the 'oligomerization' region; the 'interaction with hipk1' region
Similar variants
- TP53 p.Glu326Val Likely pathogenic same residue
- TP53 p.Glu326Ter Pathogenic ★★ same residue
- TP53 p.Glu326Asp Uncertain significance ★★ ⚠ same residue
- TP53 p.Ile254Thr Pathogenic ★★★ same condition
- TP53 p.Pro72Arg Benign ★★★ same condition
- TP53 p.Arg267Pro Pathogenic ★★ same condition
- TP53 p.Arg280Thr Pathogenic/Likely pathogenic ★★ same condition
- TP53 p.Cys275Tyr 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/tp53-p-glu326 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown