WFDC1

Chr 16

WAP four-disulfide core domain 1

ENSG00000103175 UniProt: Q9HC57 OMIM: 605322

WFDC1 encodes a protease inhibitor protein containing WAP-type four-disulfide core domains that has growth inhibitory activity. The gene is extremely tolerant to loss-of-function variants (pLI near 0, LOEUF 1.72) and no established Mendelian disorders have been associated with WFDC1 mutations. This gene is located in a chromosomal region frequently deleted in various cancers and may have roles in cell proliferation control and immune function.

OMIM ResearchSummary from RefSeq, UniProt

Has growth inhibitory activity

OMIM ResearchGenerating clinical summary…

LOEUF 1.72

Clinical Summary— WFDC1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

59 VUS of 76 total submissions

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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.72LOEUF

pLI 0.000

Z-score -0.47

OE 1.14 (0.76–1.72)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.71Z-score

OE missense 1.47 (1.29–1.68)

155 obs / 105.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.14 (0.76–1.72)

0≤0.351.4

Missense OE?1.47 (1.29–1.68)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 15 / 13.2Missense obs/exp: 155 / 105.5Syn Z: -0.92

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

VUS59

Likely Benign5

Benign3

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	0	59	0	59
Likely Benign	1	2	2	5
Benign	0	3	0	3
Total	1	64	2	67

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

View in ClinVar →

44 pathogenic / likely-pathogenic (of 71) ClinVar copy-number / structural variants overlap WFDC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →