Q58S (p.Gln58Ser) variant of GJA5 (Gap junction alpha-5 protein)
Q58S (p.Gln58Ser) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
Q58S (p.Gln58Ser) variant details
- p.Gln58Ser
- rs1663880776
- gnomAD 1-147759067-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 12.70
- Population evidence available
- Literature evidence available