CPPED1

Chr 16

calcineurin like phosphoesterase domain containing 1

Also known as: CSTP1

NCBI Gene: 55313ENSG00000103381UniProt: Q9BRF8

Predicted to enable metal ion binding activity and protein serine/threonine phosphatase activity. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.45
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.000
Z-score 0.40
OE 0.88 (0.55–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.96Z-score
OE missense 1.19 (1.07–1.33)
232 obs / 194.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.55–1.45)
0≤0.351.4
Missense OE?1.19 (1.07–1.33)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 11 / 12.5Missense obs/exp: 232 / 194.5Syn Z: -1.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CPPED1 · 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