PRAMEF20

Chr 1

PRAME family member 20

Also known as: PRAMEF21

NCBI Gene: 645425ENSG00000204478UniProt: Q5VT98

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.003
Z-score -0.78
OE 1.61 (0.59–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.22 (0.98–1.52)
55 obs / 45.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.61 (0.59–1.93)
0≤0.351.4
Missense OE?1.22 (0.98–1.52)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 3 / 1.9Missense obs/exp: 55 / 45.2Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF20 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients