CLDN14 (Claudin-14) variants and mutations

CLDN14 (also known as Claudin-14) is a human protein-coding gene encoding a claudin-14 protein. A claudin in tight junctions that helps control movement between epithelial cells. Loss-of-function variants can cause recessive, nonsyndromic hearing loss. This analysis covers 634 CLDN14 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes hearing loss, autosomal recessive, deafness, and nephrolithiasis. Example CLDN14 variants include A2V, A2S, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to CLDN14

Notable CLDN14 variants

Examples include A2V, A2S, A2T, S3G, S3S, T4A, T4K, T4M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.