I10I (p.Ile10Ile) variant of GJB6 (Gap junction beta-6 protein)
I10I (p.Ile10Ile) 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.
I10I (p.Ile10Ile) variant details
- p.Ile10Ile
- rs377181573
- gnomAD 13-20223451-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0925
- CADD 1.67
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Literature evidence available