AVPI1

Chr 10

arginine vasopressin induced 1

Also known as: PP5395, VIP32, VIT32

NCBI Gene: 60370ENSG00000119986UniProt: Q5T686OMIM: 618537

Predicted to be involved in positive regulation of MAPK cascade. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.000
Z-score -0.52
OE 1.26 (0.66–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.04 (0.88–1.23)
96 obs / 92.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.26 (0.66–1.89)
0≤0.351.4
Missense OE?1.04 (0.88–1.23)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 6 / 4.8Missense obs/exp: 96 / 92.7Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AVPI1 · 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