Q58Q (p.Gln58Gln) variant of GJA5 (Gap junction alpha-5 protein)
Q58Q (p.Gln58Gln) 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.
Q58Q (p.Gln58Gln) variant details
- p.Gln58Gln
- rs782027043
- gnomAD 1-147759065-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 9.04
- Population evidence available
- Literature evidence available