Q62* (p.Gln62Ter) variant of GJA5 (Gap junction alpha-5 protein)
Q62* (p.Gln62Ter) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
Q62* (p.Gln62Ter) variant details
- p.Gln62Ter
- gnomAD 1-147759055-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available