TP53 p.Asp324fs
c.970del · rs1555524970 · VCV492744
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TP53
- Protein
- p.Asp324fs
- Coding
- c.970del
- MANE Select
- NM_000546
- dbSNP
- rs1555524970
- Type
- Deletion
- Location
- chr17:7673558 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 324
- a UniProt-annotated variant site (in sporadic cancers; somatic mutation); a UniProt-annotated variant site (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions); a UniProt-annotated variant site (in a sporadic cancer; somatic mutation); the 'disordered' region; the 'interaction with carm1' region; an α-helix; the 'interaction with hipk2' region; the 'interaction with hipk1' region
Similar variants
- TP53 p.Asp324Tyr Uncertain significance ★★ ⚠ same residue
- TP53 p.Asp324His Conflicting classifications of pathogenicity ★ ⚠ same residue
- TP53 p.Asp324Glu Likely benign ★ same residue
- TP53 p.Asp324Asn Benign ⚠ same residue
- TP53 c.993+1del Likely pathogenic ★★★ same type
- TP53 p.Ala161_Tyr163delinsAsp Likely pathogenic ★★★ same type
- TP53 p.Arg213fs Pathogenic ★★★ same type
- TP53 p.Leu252_Ile254del Pathogenic ★★★ 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/tp53-p-asp324fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown