SLC25A33

Chr 1

solute carrier family 25 member 33

Also known as: BMSC-MCP, PNC1

NCBI Gene: 84275ENSG00000171612UniProt: Q9BSK2OMIM: 610816

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
1
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.006
Z-score 2.04
OE 0.42 (0.23–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.84Z-score
OE missense 0.82 (0.72–0.94)
144 obs / 175.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.23–0.82)
0≤0.351.4
Missense OE?0.82 (0.72–0.94)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 6 / 14.4Missense obs/exp: 144 / 175.1Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC25A33 · protein map & ClinVar variants

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

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