D67D (p.Asp67Asp) variant of GJA5 (Gap junction alpha-5 protein)
D67D (p.Asp67Asp) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
D67D (p.Asp67Asp) variant details
- p.Asp67Asp
- rs781974630
- gnomAD 1-147759038-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available