Q81Q (p.Gln81Gln) variant of GJA1 (Gap junction alpha-1 protein)
Q81Q (p.Gln81Gln) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q81Q (p.Gln81Gln) variant details
- p.Gln81Gln
- gnomAD 6-121447090-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 9.61
- Population evidence available
- Structural context available
- Literature evidence available