PPIAL4F

Chr 1

peptidylprolyl isomerase A like 4F

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]

48
ClinVar variants
42
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryPPIAL4F
📋
ClinVar Variants
42 Pathogenic / Likely Pathogenic· 4 VUS of 48 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

48 submitted variants in ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic5
VUS4
Benign2
37
Pathogenic
5
Likely Pathogenic
4
VUS
2
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
37
Likely Pathogenic
5
VUS
4
Likely Benign
0
Benign
2
Total48

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PPIAL4F · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.