Y7Y (p.Tyr7Tyr) variant of GJB1 (Gap junction beta-1 protein)
Y7Y (p.Tyr7Tyr) in GJB1 (Gap junction beta-1 protein) is a synonymous change. 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.
Y7Y (p.Tyr7Tyr) variant details
- p.Tyr7Tyr
- rs2092541958
- gnomAD X-71223728-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 8.97
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available