UQCRFS1

Chr 19AR

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Also known as: ISP, MC3DN10, RIP1, RIS1, RISP, UQCR5

NCBI Gene: 7386ENSG00000169021UniProt: P47985OMIM: 191327

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex III deficiency, nuclear type 10MIM #618775
AR

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.189
Z-score 1.67
OE 0.30 (0.12–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.83Z-score
OE missense 0.56 (0.46–0.67)
75 obs / 134.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.12–0.95)
0≤0.351.4
Missense OE?0.56 (0.46–0.67)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 2 / 6.6Missense obs/exp: 75 / 134.9Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UQCRFS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients