A40A (p.Ala40Ala) variant of GJB1 (Gap junction beta-1 protein)
A40A (p.Ala40Ala) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1481496306
- gnomAD X-71223827-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.72
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available