A40A (p.Ala40Ala) variant of GJB6 (Gap junction beta-6 protein)
A40A (p.Ala40Ala) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs769484704
- gnomAD 13-20223361-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0874
- CADD 0.95
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available