A19A (p.Ala19Ala) variant of GJB1 (Gap junction beta-1 protein)
A19A (p.Ala19Ala) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs769450739
- gnomAD X-71223764-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 12.80
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available