G38G (p.Gly38Gly) variant of GJA5 (Gap junction alpha-5 protein)
G38G (p.Gly38Gly) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
G38G (p.Gly38Gly) variant details
- p.Gly38Gly
- gnomAD 1-147759125-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 10.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available