Q57* (p.Gln57Ter) variant of GJB2 (Gap junction beta-2 protein)
Q57* (p.Gln57Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs111033297
- ClinGen CA261637
- ClinVar RCV000211761
- ClinVar RCV000505512
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)