EFCAB5
Chr 17EF-hand calcium binding domain 5
Clinical Summary— EFCAB5
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.84LOEUF
pLI 0.000
Z-score 2.66
OE 0.66 (0.52–0.84)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.89Z-score
OE missense 0.91 (0.85–0.97)
672 obs / 740.2 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.66 (0.52–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.85–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.96
0≤1.21.6
LoF obs/exp: 47 / 71.2Missense obs/exp: 672 / 740.2Syn Z: 0.48
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EFCAB5 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Overexpression of NgBR inhibits high-fat diet-induced atherosclerosis in ApoE-deficiency mice
Gong K et al.·Hepatol Commun
2023
Gene-Set Enrichment Analysis for Identifying Genes and Biological Activities Associated with Growth Traits in Dromedaries
Sani MB et al.·Animals (Basel)
2022
Shared genetic architecture of obesity and gastroesophageal reflux disease
Xiao L et al.·Medicine (Baltimore)
2026
Identification and Comprehensive Analysis of FREM2 Mutation as a Potential Prognostic Biomarker in Colorectal Cancer
Du H et al.·Front Mol Biosci
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations.
Ran L et al.·Sci Adv
2025
Clinical implications and molecular mechanism of long noncoding RNA LINC00518 and protein-coding genes in skin cutaneous melanoma by genome‑wide investigation.
Wang S et al.·Arch Dermatol Res
2025Functional
Whole-exome sequencing reveals novel cancer genes and actionable targets in biliary tract cancers in primary sclerosing cholangitis.
Grimsrud MM et al.·Hepatol Commun
2024
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.
Wang H et al.·Nat Commun
2025Open Access
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools