R32R (p.Arg32Arg) variant of GJB1 (Gap junction beta-1 protein)
R32R (p.Arg32Arg) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- gnomAD X-71223803-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 12.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available