G59G (p.Gly59Gly) variant of GJB2 (Gap junction beta-2 protein)
G59G (p.Gly59Gly) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G59G (p.Gly59Gly) variant details
- p.Gly59Gly
- rs375122728
- gnomAD 13-20189405-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0959
- CADD 2.16
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Literature evidence available