CUL7 p.Arg722=
c.2164C>A · VCV4771822
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 6.21e-05%)
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 1.3 | GERP -1.8, phastCons 0.67 |
| Overall | ||
| CADD | 17.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.21e-05%
Overall
6.21e-05%
1/1,609,030 alleles · very rare
exomes 1/1,456,722 · genomes 0/152,308 · joint denominator
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
- CUL7
- Protein
- p.Arg722=
- Coding
- c.2164C>A
- MANE Select
- NM_014780
- Type
- single nucleotide variant
- Location
- chr6:43048153 (GRCh38)
- Gene constraint
- LOEUF 0.62 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.11 · 2 PDB
Similar variants
- CUL7 p.Arg722Ter Pathogenic ★★ same residue
- CUL7 c.2397+1G>A Likely pathogenic ★★ same type
- CUL7 c.2398-2A>G Likely pathogenic ★★ same type
- CUL7 c.2660+1G>C Pathogenic ★★ same type
- CUL7 c.3356-2A>C Likely pathogenic ★★ same type
- CUL7 p.Arg1440Ter Pathogenic/Likely pathogenic ★★ same type
- CUL7 p.Arg1445Ter Pathogenic ★★ same type
- CUL7 p.Arg1573Ter Pathogenic ★★ 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/cul7-p-arg722 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown