PRM1

Chr 16

protamine 1

Also known as: CT94.1, P1

NCBI Gene: 5619ENSG00000175646UniProt: P04553OMIM: 182880

Predicted to enable DNA binding activity. Predicted to be involved in chromosome organization and spermatogenesis. Predicted to act upstream of or within nucleus organization and spermatid development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
1
Active trials
38
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.027
Z-score 0.07
OE 0.95 (0.35–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.54Z-score
OE missense 1.25 (0.98–1.60)
45 obs / 36.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.35–1.87)
0≤0.351.4
Missense OE?1.25 (0.98–1.60)
0≤0.61.4
Synonymous OE?1.63
0≤1.21.6
LoF obs/exp: 2 / 2.1Missense obs/exp: 45 / 36.0Syn Z: -1.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRM1 · 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

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