MSS51

Chr 10

MSS51 mitochondrial translational activator

Also known as: ZMYND17

NCBI Gene: 118490ENSG00000166343UniProt: Q4VC12OMIM: 614773

Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.38
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.38LOEUF
pLI 0.000
Z-score 0.32
OE 0.92 (0.63–1.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.90 (0.81–1.01)
236 obs / 261.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.63–1.38)
0≤0.351.4
Missense OE?0.90 (0.81–1.01)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 17 / 18.5Missense obs/exp: 236 / 261.0Syn Z: 1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MSS51 · 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