TRAF2 p.Phe361=
c.1083C>T · rs17250560 · VCV783563
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.63%, afr)
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 -7.1 | GERP -3.7 |
| Overall | ||
| CADD | 5.087 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.63%
African / African-American · 3,476/75,010 alleles
Filtering AF
4.51%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.45%
Overall
0.251%
4,052/1,613,904 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.63% | 22 |
| Middle Eastern | 0.429% | 233 |
| Remaining individualsnot grpmax-eligible | 0.341% | 293 |
| Admixed American | 0.313% | 319 |
| European (non-Finnish) | 0.0117% | 8,551 |
| South Asian | 0.00988% | 10,121 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,802 |
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
- TRAF2
- Protein
- p.Phe361=
- Coding
- c.1083C>T
- MANE Select
- NM_021138
- dbSNP
- rs17250560
- Type
- single nucleotide variant
- Location
- chr9:136921160 (GRCh38)
- Structure
- AlphaFold pLDDT 60.31 · 3 PDB
Similar variants
- TANK p.Gln113Glu Benign ★★ same type
- TRAF2 p.Arg308= Benign ★★ same type
- TRAF2 p.Gly81= Benign ★★ same type
- TANK p.Arg40Ser Uncertain significance ★ ⚠ same type
- TANK p.Arg42Cys Uncertain significance ★ ⚠ same type
- TANK p.Asn87Ser Uncertain significance ★ ⚠ same type
- TANK p.Asn88Ile Uncertain significance ★ ⚠ same type
- TANK p.Asp70Gly 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/traf2-p-phe361 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown