D47G (p.Asp47Gly) variant of GJA5 (Gap junction alpha-5 protein)
D47G (p.Asp47Gly) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- gnomAD 1-147759099-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 25.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available