EFCAB14

Chr 1

EF-hand calcium binding domain 14

Also known as: KIAA0494

NCBI Gene: 9813ENSG00000159658UniProt: O75071OMIM: 619559

The EFCAB14 protein is predicted to bind calcium ions and localize to cellular membranes. Mutations in this gene have not been definitively associated with human disease based on the available information. This gene appears to tolerate loss-of-function variants well, as indicated by its low constraint scores.

OMIMResearchSummary from RefSeq
DNmechanismLOEUF 0.95
Clinical Summary— EFCAB14
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 unique Pathogenic / Likely Pathogenic· 67 VUS of 95 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.95LOEUF
pLI 0.000
Z-score 1.73
OE 0.62 (0.41–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.39Z-score
OE missense 0.93 (0.84–1.03)
247 obs / 265.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.62 (0.41–0.95)
0≤0.351.4
Missense OE0.93 (0.84–1.03)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 15 / 24.2Missense obs/exp: 247 / 265.1Syn Z: -0.51
DN
0.76top 25%
GOF
0.5563th %ile
LOF
0.2680th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic2
VUS67
Likely Benign2
4
Pathogenic
2
Likely Pathogenic
67
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
2
0
2
VUS
0
64
3
0
67
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0669075

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EFCAB14 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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