W56* (p.Trp56Ter) variant of CLDN14 (Claudin-14)
W56* (p.Trp56Ter) in CLDN14 (Claudin-14) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W56* (p.Trp56Ter) variant details
- p.Trp56Ter
- rs371100799
- ClinGen CA199223
- cosmic curated COSV59776
- ClinVar RCV000169748
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. (PMID 22246673)