A39A (p.Ala39Ala) variant of GJB6 (Gap junction beta-6 protein)
A39A (p.Ala39Ala) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs727503070
- gnomAD 13-20223364-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.28
- Most common in the Latino/Admixed American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available