COQ9 p.Pro214=
c.642G>A · rs374294033 · VCV1448222
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, 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 -8.3 | GERP -3.5 |
| Overall | ||
| CADD | 1.267 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,082 alleles
Filtering AF
0.00624%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00468%
Overall
0.00322%
52/1,612,498 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,082 |
| African / African-American | 0.012% | 8,317 |
| Admixed American | 0.01% | 9,981 |
| South Asian | 0.00442% | 22,645 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,564 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,213 |
| European (non-Finnish) | 0.00246% | 40,670 |
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
- COQ9
- Protein
- p.Pro214=
- Coding
- c.642G>A
- MANE Select
- NM_020312
- dbSNP
- rs374294033
- Type
- single nucleotide variant
- Location
- chr16:57458281 (GRCh38)
- Gene constraint
- LOEUF 1.035 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.16 · 5 PDB
- Residue 214
- an α-helix
Similar variants
- COQ9 p.Pro214Leu 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-pro214 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown