Q7* (p.Gln7Ter) variant of GJB2 (Gap junction beta-2 protein)
Q7* (p.Gln7Ter) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs111033451
- ClinGen CA261641
- ClinVar RCV000037820
- ClinVar RCV000211718
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)