S42S (p.Ser42Ser) variant of GJB1 (Gap junction beta-1 protein)
S42S (p.Ser42Ser) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S42S (p.Ser42Ser) variant details
- p.Ser42Ser
- rs1184846357
- gnomAD X-71223833-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.68
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available