I9I (p.Ile9Ile) variant of GJB2 (Gap junction beta-2 protein)
I9I (p.Ile9Ile) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I9I (p.Ile9Ile) variant details
- p.Ile9Ile
- rs1286249617
- gnomAD 13-20189555-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available