TP73 p.Val245=
c.735G>A · rs61736981 · VCV772649
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 6.17%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -4.4, phastCons 1 |
| Overall | ||
| CADD | 15.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.17%
African / African-American · 4,624/74,932 alleles
Filtering AF
6.02%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.96%
Overall
0.321%
5,166/1,611,372 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.17% | 16 |
| Admixed American | 0.404% | 247 |
| Remaining individualsnot grpmax-eligible | 0.388% | 258 |
| Middle Eastern | 0.215% | 466 |
| South Asian | 0.00879% | 11,376 |
| European (non-Finnish) | 0.00314% | 31,868 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TP73
- Protein
- p.Val245=
- Coding
- c.735G>A
- MANE Select
- NM_005427
- dbSNP
- rs61736981
- Type
- single nucleotide variant
- Location
- chr1:3727117 (GRCh38)
- Gene constraint
- LOEUF 0.576 · pLI 0.29 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 66.25 · 28 PDB
- Residue 245
- a UniProt-annotated variant site (in cild47); the 'dna-binding' region
Similar variants
- TP73 p.Arg538Cys Uncertain significance ★★ ⚠ same type
- TP73 p.Gly451Arg Uncertain significance ★★ ⚠ same type
- TP73 c.65+9G>A Benign/Likely benign ★★ same type
- TP73 p.Ala325Thr Benign ★★ same type
- TP73 p.Gln391= Benign ★★ same type
- TP73 p.His418= Benign/Likely benign ★★ same type
- TP73 p.Ser563= Benign ★★ same type
- TP73 p.Thr136= Benign/Likely benign ★★ 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/tp73-p-val245 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown