W3* (p.Trp3Ter) variant of GJB2 (Gap junction beta-2 protein)
W3* (p.Trp3Ter) 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 0.97 / 1. The record also includes published literature and structural context.
W3* (p.Trp3Ter) variant details
- p.Trp3Ter
- rs111033401
- ClinGen CA261655
- ClinVar RCV000037874
- ClinVar RCV000666282
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)