TRAF7 p.Pro241=
c.723G>A · rs564325600 · VCV3043714
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.184%, sas)
Conditions
1
TRAF7-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.49 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.7 | GERP -3.8 |
| Overall | ||
| CADD | 6.494 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.184%
South Asian · 162/87,998 alleles
Filtering AF
0.161%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.152%
Overall
0.0146%
233/1,591,756 alleles · rare
exomes 216/1,439,498 · genomes 17/152,258 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.184% | 543 |
| Middle Eastern | 0.0383% | 2,612 |
| Remaining individualsnot grpmax-eligible | 0.0195% | 5,135 |
| European (non-Finnish) | 0.00479% | 20,889 |
| East Asian | 0.00227% | 44,032 |
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
- TRAF7
- Protein
- p.Pro241=
- Coding
- c.723G>A
- MANE Select
- NM_032271
- dbSNP
- rs564325600
- Type
- single nucleotide variant
- Location
- chr16:2172528 (GRCh38)
- Gene constraint
- LOEUF 0.675 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.16 · 1 PDB
Disease context
TRAF7-related disorder
Similar variants
- TRAF7 p.Pro241Gln Uncertain significance ★ ⚠ same residue
- TRAF7 p.Pro241Leu Likely benign ★ same residue
- TRAF7 p.Arg524Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TRAF7 p.Arg655Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TRAF7 p.Leu625Phe Likely pathogenic ★ same condition
- TRAF7 p.Phe617Ser Likely pathogenic ★ same condition
- TRAF7 p.Ser663Thr Likely pathogenic ★ ⚠ same condition
- TRAF7 c.1346+3G>A Uncertain significance ★ 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/traf7-p-pro241 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown