G60G (p.Gly60Gly) variant of GJA5 (Gap junction alpha-5 protein)
G60G (p.Gly60Gly) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
G60G (p.Gly60Gly) variant details
- p.Gly60Gly
- rs1553227075
- gnomAD 1-147759059-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 8.74
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available