VEPH1

Chr 3

ventricular zone expressed PH domain containing 1

Also known as: MELT, VEPH

NCBI Gene: 79674ENSG00000197415UniProt: Q14D04OMIM: 609594

Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.22
Clinical Summary— VEPH1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.45
OE 0.92 (0.70–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.21Z-score
OE missense 1.03 (0.95–1.11)
446 obs / 433.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.92 (0.70–1.22)
0≤0.351.4
Missense OE?1.03 (0.95–1.11)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 35 / 38.0Missense obs/exp: 446 / 433.5Syn Z: 1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VEPH1 · 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