SLC25A44

Chr 1

solute carrier family 25 member 44

NCBI Gene: 9673ENSG00000160785UniProt: Q96H78OMIM: 610824

SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.001
Z-score 1.71
OE 0.50 (0.29–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.95Z-score
OE missense 0.60 (0.51–0.70)
111 obs / 186.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.29–0.95)
0≤0.351.4
Missense OE?0.60 (0.51–0.70)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 7 / 13.9Missense obs/exp: 111 / 186.0Syn Z: 1.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC25A44 · 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