TP53 p.Phe341Ser
c.1021_1022delinsAG · rs2543473385 · VCV2450748
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
hereditary neoplastic syndrome
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 11 | GERP 2, phastCons 1 |
| Regional constraint | o/e 0.89 | unconstrained · MANE · 6,982 bp · p 0.0085 · regional, not allelic |
Population frequency
dbSNP / gnomAD
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.Phe341Ser
- Coding
- c.1021_1022delinsAG
- MANE Select
- NM_000546
- dbSNP
- rs2543473385
- Type
- Indel
- Location
- chr17:7670687 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 341
- a UniProt-annotated variant site (in sporadic cancers; somatic mutation); the 'interaction with carm1' region; an α-helix; the 'interaction with hipk2' region; the 'oligomerization' region; the 'interaction with hipk1' region
Similar variants
- TP53 p.Phe341= Benign/Likely benign ★★ same residue
- TP53 p.Phe341Leu Likely benign ★ ⚠ same residue
- TP53 p.Pro72Cys Uncertain significance ★★★ same condition
- TP53 p.Arg213Trp Pathogenic/Likely pathogenic ★★ same condition
- TP53 p.Pro72Ser Uncertain significance ★★ same condition
- TP53 c.96+15_96+31delinsC Likely benign ★★ same condition
- TP53 c.559+2_559+3delinsGT Likely pathogenic ★ same condition
- TP53 c.672+2_672+3delinsAA 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-phe341ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown