PRAMEF6
Chr 1PRAME family member 6
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.98LOEUF
pLI 0.000
Z-score -3.01
OE 2.47 (1.24–1.98)
Highly tolerant — LoF variants common in population
Missense Constraint?
-2.20Z-score
OE missense 1.81 (1.53–1.97)
107 obs / 59.2 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?2.47 (1.24–1.98)
0≤0.351.4
Missense OE?1.81 (1.53–1.97)
0≤0.61.4
Synonymous OE?1.65
0≤1.21.6
LoF obs/exp: 12 / 4.9Missense obs/exp: 107 / 59.2Syn Z: -2.45
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRAMEF6 · 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