COQ2 p.Pro302=
c.906C>G · rs1456838933 · VCV1994677
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -0.5, phastCons 1 |
| Overall | ||
| CADD | 8.154 | 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
- COQ2
- Protein
- p.Pro302=
- Coding
- c.906C>G
- MANE Select
- NM_001358921
- dbSNP
- rs1456838933
- Type
- single nucleotide variant
- Location
- chr4:83267631 (GRCh38)
- Gene constraint
- LOEUF 1.032 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.64
Similar variants
- COQ2 p.Arg123Cys Likely pathogenic ★★ same type
- COQ2 p.Arg147His Pathogenic/Likely pathogenic ★★ same type
- COQ2 p.Gln44Ter Likely pathogenic ★★ same type
- COQ2 p.Ser96Asn Pathogenic ★★ same type
- COQ2 p.Trp24Ter Likely pathogenic ★★ same type
- COQ2 p.Trp87Ter Pathogenic/Likely pathogenic ★★ same type
- COQ2 c.-26G>C Uncertain significance ★★ same type
- COQ2 c.-4C>A 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/coq2-p-pro302 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown