TRAF7 p.Arg524=
c.1570C>A · VCV4888216
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.30 | donor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 17.16 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TRAF7
- Protein
- p.Arg524=
- Coding
- c.1570C>A
- MANE Select
- NM_032271
- Type
- single nucleotide variant
- Location
- chr16:2175566 (GRCh38)
- Gene constraint
- LOEUF 0.675 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.16 · 1 PDB
Similar variants
- TRAF7 p.Arg524Trp Pathogenic/Likely pathogenic ★★ ⚠ same residue
- TRAF7 p.Arg524Gln Pathogenic ★ ⚠ same residue
- TRAF7 p.Arg655Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- TRAF7 p.Leu402Val Pathogenic ★★ ⚠ same type
- TRAF7 p.Leu625Val Pathogenic/Likely pathogenic ★★ ⚠ same type
- TRAF7 p.Ser558Phe Pathogenic ★★ ⚠ same type
- TRAF7 p.Ser629Asn Pathogenic/Likely pathogenic ★★ ⚠ same type
- TRAF7 p.Arg316Cys 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/traf7-p-arg524 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown