WIF1

Chr 12

Wnt inhibitory factor 1

Also known as: WIF-1

The protein inhibits WNT signaling by directly binding to WNT proteins and is involved in mesoderm segmentation during development. Mutations cause autosomal recessive omodysplasia, a skeletal dysplasia characterized by limb shortening, facial dysmorphism, and developmental abnormalities. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.09
Clinical SummaryWIF1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.09LOEUF
pLI 0.000
Z-score 1.22
OE 0.73 (0.501.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.48Z-score
OE missense 0.91 (0.801.02)
185 obs / 204.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.501.09)
00.351.4
Missense OE0.91 (0.801.02)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 17 / 23.4Missense obs/exp: 185 / 204.1Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

WIF1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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