I25I (p.Ile25Ile) variant of GJB6 (Gap junction beta-6 protein)
I25I (p.Ile25Ile) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I25I (p.Ile25Ile) variant details
- p.Ile25Ile
- rs1428463920
- gnomAD 13-20223406-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 9.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available