S26S (p.Ser26Ser) variant of GJB1 (Gap junction beta-1 protein)
S26S (p.Ser26Ser) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S26S (p.Ser26Ser) variant details
- p.Ser26Ser
- rs749174507
- gnomAD X-71223785-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 1.08
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available