I35I (p.Ile35Ile) variant of GJB6 (Gap junction beta-6 protein)
I35I (p.Ile35Ile) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I35I (p.Ile35Ile) variant details
- p.Ile35Ile
- rs773325500
- gnomAD 13-20223376-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 8.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available