PHF14

Chr 7

PHD finger protein 14

NCBI Gene: 9678ENSG00000106443UniProt: O94880OMIM: 619907

Enables histone binding activity. Predicted to be involved in several processes, including germinal center B cell differentiation; lung development; and negative regulation of mesenchymal cell proliferation involved in lung development. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 0.40
Clinical Summary— PHF14
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.265
Z-score 4.66
OE 0.23 (0.14–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.54Z-score
OE missense 0.65 (0.59–0.72)
277 obs / 423.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.14–0.40)
0≤0.351.4
Missense OE?0.65 (0.59–0.72)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 10 / 42.9Missense obs/exp: 277 / 423.9Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PHF14 · 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.

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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