C60C (p.Cys60Cys) variant of GJB6 (Gap junction beta-6 protein)
C60C (p.Cys60Cys) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C60C (p.Cys60Cys) variant details
- p.Cys60Cys
- gnomAD 13-20223301-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 10.00
- Population evidence available
- Structural context available
- Literature evidence available