I28M (p.Ile28Met) variant of GJB6 (Gap junction beta-6 protein)
I28M (p.Ile28Met) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- gnomAD rs1300641563
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available