I20I (p.Ile20Ile) variant of GJB6 (Gap junction beta-6 protein)
I20I (p.Ile20Ile) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
I20I (p.Ile20Ile) variant details
- p.Ile20Ile
- rs778513540
- gnomAD 13-20223421-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.91
- Most common in the REMAINING population (allele frequency 0.00096)
- Literature evidence available