I20I (p.Ile20Ile) variant of GJB1 (Gap junction beta-1 protein)
I20I (p.Ile20Ile) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I20I (p.Ile20Ile) variant details
- p.Ile20Ile
- rs2092542240
- gnomAD X-71223767-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available