TRAF6 p.Pro183=
c.549A>G · rs140668198 · VCV724565
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0413%, nfe)
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 -0.56 | GERP -1.7, phastCons 0.043 |
| Overall | ||
| CADD | 8.551 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0413%
European (non-Finnish) · 487/1,179,990 alleles
Filtering AF
0.0382%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.037%
Overall
0.0318%
514/1,613,918 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0413% | 2,423 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,905 |
| African / African-American | 0.012% | 8,323 |
| Admixed American | 0.00333% | 29,991 |
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
- TRAF6
- Protein
- p.Pro183=
- Coding
- c.549A>G
- MANE Select
- NM_004620
- dbSNP
- rs140668198
- Type
- single nucleotide variant
- Location
- chr11:36497165 (GRCh38)
- Gene constraint
- LOEUF 0.356 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.30 · 13 PDB
- Residue 183
- the 'interaction with tax1bp1' region
Similar variants
- TRAF6 p.Ala194Thr Uncertain significance ★ ⚠ same type
- TRAF6 p.Arg167His Uncertain significance ★ ⚠ same type
- TRAF6 p.Arg402His Uncertain significance ★ same type
- TRAF6 p.Asn212Ser Uncertain significance ★ ⚠ same type
- TRAF6 p.Asp181Ala Uncertain significance ★ ⚠ same type
- TRAF6 p.Glu114Asp Uncertain significance ★ ⚠ same type
- TRAF6 p.Glu144Lys Uncertain significance ★ ⚠ same type
- TRAF6 p.Glu225Gln 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/traf6-p-pro183 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown