EFCC1

Chr 3

EF-hand and coiled-coil domain containing 1

Also known as: C3orf73, CCDC48

NCBI Gene: 79825ENSG00000114654UniProt: Q9HA90

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

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 0.99
OE 0.74 (0.48–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.72Z-score
OE missense 0.88 (0.79–0.98)
239 obs / 272.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.48–1.18)
0≤0.351.4
Missense OE?0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 13 / 17.5Missense obs/exp: 239 / 272.6Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EFCC1 · 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