PRR20E
Chr 13proline rich 20E
The PRR20E protein is proline-rich and contains dopamine D4 receptor signature domains, though its specific cellular function remains unclear. Currently, no established human diseases have been definitively linked to mutations in this gene. This gene is part of a cluster of five identical loci on chromosome 13q21.1, which may complicate genetic analysis and variant interpretation.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
87 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 61 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 18 |
Likely Benign | — | — | — | — | 5 |
Benign | — | — | — | — | 0 |
| Total | — | 86 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRR20E · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools