Q62Q (p.Gln62Gln) variant of GJA5 (Gap junction alpha-5 protein)
Q62Q (p.Gln62Gln) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
Q62Q (p.Gln62Gln) variant details
- p.Gln62Gln
- rs782397054
- gnomAD 1-147759053-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 10.40
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Literature evidence available