C53C (p.Cys53Cys) variant of GJB2 (Gap junction beta-2 protein)
C53C (p.Cys53Cys) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C53C (p.Cys53Cys) variant details
- p.Cys53Cys
- rs888444898
- gnomAD 13-20189423-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 8.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available