CUL7 p.Pro1049=
c.3147C>T · rs111240161 · VCV2192640
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0496%, mid)
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 -0.43 | GERP -1.9, phastCons 0.004 |
| Overall | ||
| CADD | 3.043 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0496%
Middle Eastern · 3/6,050 alleles
Filtering AF
0.0134%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0109%
Overall
0.00372%
60/1,612,070 alleles · ultra-rare
exomes 50/1,459,784 · genomes 10/152,286 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0496% | 2,017 |
| African / African-American | 0.0213% | 4,687 |
| East Asian | 0.00893% | 11,198 |
| Remaining individualsnot grpmax-eligible | 0.00801% | 12,482 |
| European (non-Finnish) | 0.00255% | 39,277 |
| South Asian | 0.0022% | 45,504 |
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.Pro1049=
- Coding
- c.3147C>T
- MANE Select
- NM_014780
- dbSNP
- rs111240161
- Type
- single nucleotide variant
- Location
- chr6:43044777 (GRCh38)
- Gene constraint
- LOEUF 0.62 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.11 · 2 PDB
- Residue 1049
- an α-helix
Similar variants
- 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
- CUL7 p.Arg382Ter 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-pro1049 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown