E2F7 p.Pro857=
c.2571A>C · rs141743480 · VCV707899
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.358%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.105 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.6 | GERP -4.8 |
| Overall | ||
| CADD | 2.116 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.358%
African / African-American · 267/74,574 alleles
Filtering AF
0.323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.309%
Overall
0.0201%
324/1,610,532 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.358% | 279 |
| Admixed American | 0.0442% | 2,263 |
| Remaining individualsnot grpmax-eligible | 0.0369% | 2,709 |
| South Asian | 0.00774% | 12,923 |
| European (non-Finnish) | 8.48e-05% | 1,179,152 |
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
- E2F7
- Protein
- p.Pro857=
- Coding
- c.2571A>C
- MANE Select
- NM_203394
- dbSNP
- rs141743480
- Type
- single nucleotide variant
- Location
- chr12:77024180 (GRCh38)
- Gene constraint
- LOEUF 0.58 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 51.31
Similar variants
- E2F7 p.Arg645Thr Benign ★★ same type
- E2F7 p.Asp478= Benign ★★ same type
- E2F7 p.Pro431= Benign ★★ same type
- E2F7 p.Tyr843= Benign ★★ same type
- E2F7 p.Ala117Thr Uncertain significance ★ ⚠ same type
- E2F7 p.Ala131Thr Uncertain significance ★ ⚠ same type
- E2F7 p.Ala406Ser Uncertain significance ★ ⚠ same type
- E2F7 p.Ala466Val Uncertain significance ★ ⚠ 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/e2f7-p-pro857 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown