W44* (p.Trp44Ter) variant of GJB2 (Gap junction beta-2 protein)
W44* (p.Trp44Ter) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DFNA3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
W44* (p.Trp44Ter) variant details
- p.Trp44Ter
- rs104894407
- ClinGen CA172211
- ClinVar RCV000146007
- ClinVar RCV000593364
- Pathogenic
- in DFNA3A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- CADD 39.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: A Mayan founder mutation is a common cause of deafness in Guatemala. (PMID 26346709)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)