CUL7 p.Asn367=
c.1101T>C · rs1764361426 · VCV908586
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
3M syndrome 1
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 0.82 | GERP -0.24 |
| Overall | ||
| CADD | 6.749 | 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
- CUL7
- Protein
- p.Asn367=
- Coding
- c.1101T>C
- MANE Select
- NM_014780
- dbSNP
- rs1764361426
- Type
- single nucleotide variant
- Location
- chr6:43051100 (GRCh38)
- Gene constraint
- LOEUF 0.62 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.11 · 2 PDB
- Residue 367
- the cph domain; an α-helix
Similar variants
- CUL7 c.2397+1G>A Likely pathogenic ★★ same condition
- CUL7 c.2660+1G>C Pathogenic ★★ same condition
- CUL7 c.3356-2A>C Likely pathogenic ★★ same condition
- CUL7 p.Arg1440Ter Pathogenic/Likely pathogenic ★★ same condition
- CUL7 p.Arg1445Ter Pathogenic ★★ same condition
- CUL7 p.Arg1573Ter Pathogenic ★★ same condition
- CUL7 p.Arg382Ter Pathogenic ★★ same condition
- CUL7 p.Arg550Ter Pathogenic/Likely pathogenic ★★ same condition
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-asn367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown