D3D (p.Asp3Asp) variant of GJA5 (Gap junction alpha-5 protein)
D3D (p.Asp3Asp) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
D3D (p.Asp3Asp) variant details
- p.Asp3Asp
- rs587770589
- gnomAD 1-147759230-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 10.70
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Literature evidence available