R15R (p.Arg15Arg) variant of GJB1 (Gap junction beta-1 protein)
R15R (p.Arg15Arg) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R15R (p.Arg15Arg) variant details
- p.Arg15Arg
- rs2092542147
- gnomAD X-71223752-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 11.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available