MCL1

Chr 1

MCL1 apoptosis regulator, BCL2 family member

Also known as: BCL2L3, EAT, MCL1-ES, MCL1L, MCL1S, Mcl-1, TM, bcl2-L-3

NCBI Gene: 4170ENSG00000143384UniProt: Q07820

This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
4
Active trials
259
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.963
Z-score 2.97
OE 0.00 (0.00–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
-0.36Z-score
OE missense 1.07 (0.96–1.20)
208 obs / 193.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.29)
0≤0.351.4
Missense OE?1.07 (0.96–1.20)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 0 / 10.3Missense obs/exp: 208 / 193.7Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MCL1 · 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