PRR14
Chr 16proline rich 14
This protein tethers heterochromatin to the nuclear lamina during interphase and promotes skeletal muscle differentiation by stimulating MyoD transcription factor activity. PRR14 mutations cause autosomal recessive intellectual disability with hypotonia and poor growth, with affected individuals showing developmental delays from infancy. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRR14 · 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 →External Resources
Links to major genomics databases and tools