COQ10B

Chr 2

coenzyme Q10B

NCBI Gene: 80219 ENSG00000115520 UniProt: Q9H8M1 OMIM: 620737

This protein is required for coenzyme Q function in the mitochondrial respiratory chain and may serve as a chaperone or transport Q6 to respiratory complexes. Mutations cause primary coenzyme Q10 deficiency, which presents as a mitochondrial disorder affecting multiple systems including the brain, kidneys, and muscles. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable ubiquinone binding activity. Predicted to be involved in cellular respiration. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.62

Clinical Summary— COQ10B

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.

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ClinVar Variants

22 VUS of 31 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.62LOEUF

pLI 0.294

Z-score 2.48

OE 0.24 (0.11–0.62)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.00Z-score

OE missense 0.75 (0.64–0.89)

96 obs / 127.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.24 (0.11–0.62)

0≤0.351.4

Missense OE?0.75 (0.64–0.89)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 3 / 12.5Missense obs/exp: 96 / 127.9Syn Z: 0.64

This gene — mechanism propensity

0.6453th %ile

GOF

0.4875th %ile

LOF

0.4430th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS22

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	22	0	22
Likely Benign	2	1	3
Benign	0	0	0
Total	24	1	25

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

36 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap COQ10B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →