PPIAL4H

Chr 1

peptidylprolyl isomerase A like 4H

NCBI Gene: 105371242ENSG00000270339UniProt: A0A075B767

Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

51
ClinVar variants
47
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PPIAL4H
📋
ClinVar Variants
47 Pathogenic / Likely Pathogenic· 2 VUS of 51 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic5
VUS2
Benign1
Conflicting1
42
Pathogenic
5
Likely Pathogenic
2
VUS
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————42
Likely Pathogenic
————5
VUS
————2
Likely Benign
————0
Benign
————1
Conflicting
—1
Total—51

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PPIAL4H · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for PPIAL4H

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