R32* (p.Arg32Ter) variant of GJB6 (Gap junction beta-6 protein)
R32* (p.Arg32Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
R32* (p.Arg32Ter) variant details
- p.Arg32Ter
- rs577509855
- ClinGen CA6904514
- cosmic curated COSV53833
- ClinVar RCV002721771
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)