R32R (p.Arg32Arg) variant of GJB6 (Gap junction beta-6 protein)
R32R (p.Arg32Arg) in GJB6 (Gap junction beta-6 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 and published literature.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- gnomAD 13-20223385-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0855
- CADD 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available