S11S (p.Ser11Ser) variant of GJB1 (Gap junction beta-1 protein)
S11S (p.Ser11Ser) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- rs2147944838
- gnomAD X-71223740-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 9.30
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available