PDGFRL
Chr 8platelet derived growth factor receptor like
Also known as: PDGRL, PRLTS
The protein shares significant sequence similarity with the ligand binding domain of platelet-derived growth factor receptor beta and functions as a tumor suppressor. Mutations cause somatic colorectal cancer and hepatocellular cancer, indicating these are acquired rather than inherited cancers. This gene is highly intolerant to loss-of-function variants in the general population, consistent with its tumor suppressor role.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
196 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 77 | 0 | 78 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 81 | 9 | 0 | 90 |
Likely Benign | 0 | 2 | 1 | 1 | 4 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 2 | |||
| Total | 0 | 85 | 91 | 2 | 180 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDGFRL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools