PPIAL4D

Chr 1

peptidylprolyl isomerase A like 4D

NCBI Gene: 645142ENSG00000289549UniProt: F5H284

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]

80
ClinVar variants
71
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PPIAL4D
📋
ClinVar Variants
71 Pathogenic / Likely Pathogenic· 7 VUS of 80 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic65
Likely Pathogenic6
VUS7
Benign2
65
Pathogenic
6
Likely Pathogenic
7
VUS
2
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————65
Likely Pathogenic
————6
VUS
————7
Likely Benign
————0
Benign
————2
Total—80

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PPIAL4D · 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 PPIAL4D

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