Y65* (p.Tyr65Ter) variant of GJB2 (Gap junction beta-2 protein)
Y65* (p.Tyr65Ter) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y65* (p.Tyr65Ter) variant details
- p.Tyr65Ter
- rs763572195
- ClinGen CA387461648
- ClinVar RCV000778388
- ClinVar RCV001231552
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)