CCM2L

Chr 20

CCM2 like scaffold protein

Also known as: C20orf160, dJ310O13.5

NCBI Gene: 140706ENSG00000101331UniProt: Q9NUG4

Predicted to be involved in heart morphogenesis. Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.25
OE 0.68 (0.43–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.91Z-score
OE missense 0.81 (0.71–0.93)
151 obs / 185.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.43–1.10)
0≤0.351.4
Missense OE?0.81 (0.71–0.93)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 12 / 17.6Missense obs/exp: 151 / 185.9Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCM2L · 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