G8G (p.Gly8Gly) variant of GJA5 (Gap junction alpha-5 protein)
G8G (p.Gly8Gly) in GJA5 (Gap junction alpha-5 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 and published literature.
G8G (p.Gly8Gly) variant details
- p.Gly8Gly
- rs781784744
- gnomAD 1-147759215-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0893
- CADD 1.22
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Literature evidence available