W24* (p.Trp24Ter) variant of GJB2 (Gap junction beta-2 protein)
W24* (p.Trp24Ter) in GJB2 (Gap junction beta-2 protein) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W24* (p.Trp24Ter) variant details
- p.Trp24Ter
- rs769486081
- ClinGen CA387462076
- ClinVar RCV000670427
- ClinVar RCV002531252
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene… (PMID 12833397)
- Cited in: High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal… (PMID 16088916)