A40A (p.Ala40Ala) variant of GJB2 (Gap junction beta-2 protein)
A40A (p.Ala40Ala) in GJB2 (Gap junction beta-2 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.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs561870637
- gnomAD 13-20189462-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0831
- CADD 0.35
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available