C64C (p.Cys64Cys) variant of GJB6 (Gap junction beta-6 protein)
C64C (p.Cys64Cys) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C64C (p.Cys64Cys) variant details
- p.Cys64Cys
- gnomAD 13-20223289-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 9.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available