I52I (p.Ile52Ile) variant of GJB1 (Gap junction beta-1 protein)
I52I (p.Ile52Ile) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- rs2092542946
- gnomAD X-71223863-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 8.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available