CWH43

Chr 4

cell wall biogenesis 43 C-terminal homolog

Also known as: CWH43-C, PGAP2IP

NCBI Gene: 80157ENSG00000109182UniProt: Q9H720OMIM: 618561

Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; membrane protein ectodomain proteolysis; and protein import into nucleus. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.40
OE 0.93 (0.71–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.93–1.10)
368 obs / 364.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.71–1.24)
0≤0.351.4
Missense OE?1.01 (0.93–1.10)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 34 / 36.6Missense obs/exp: 368 / 364.8Syn Z: -2.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CWH43 · 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