COQ9 p.Glu91=
c.273G>A · rs1301403024 · VCV1567273
Likely benign
Single submitter
Classification
Likely benign
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 carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 0.86, phastCons 1 |
| Overall | ||
| CADD | 8.567 | 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
- COQ9
- Protein
- p.Glu91=
- Coding
- c.273G>A
- MANE Select
- NM_020312
- dbSNP
- rs1301403024
- Type
- single nucleotide variant
- Location
- chr16:57452831 (GRCh38)
- Gene constraint
- LOEUF 1.035 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.16 · 5 PDB
- Residue 91
- the 'disordered' region
Similar variants
- COQ9 p.Glu91Asp Uncertain significance ★ ⚠ same residue
- COQ9 c.522-1G>A Likely pathogenic ★★ same type
- COQ9 c.711+3G>C Pathogenic ★★ same type
- COQ9 p.Arg244Ter Pathogenic/Likely pathogenic ★★ same type
- COQ9 p.Arg29Ter Pathogenic/Likely pathogenic ★★ same type
- COQ9 c.242+5G>A Uncertain significance ★★ same type
- COQ9 p.Ala120Val Uncertain significance ★★ ⚠ same type
- COQ9 p.Ala122Thr 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/coq9-p-glu91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown