PPIAL4E

Chr 1

peptidylprolyl isomerase A like 4E

Also known as: COAS2

NCBI Gene: 730262ENSG00000271567UniProt: A0A075B759

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]

85
ClinVar variants
40
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PPIAL4E
📋
ClinVar Variants
40 Pathogenic / Likely Pathogenic· 36 VUS of 85 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

85 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic4
VUS36
Likely Benign4
Benign5
36
Pathogenic
4
Likely Pathogenic
36
VUS
4
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
4
0
4
VUS
0
32
4
0
36
Likely Benign
0
2
2
0
4
Benign
0
0
5
0
5
Total03451085

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

View in ClinVar →

Protein Context — Lollipop Plot

PPIAL4E · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for PPIAL4E

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