Q81Q (p.Gln81Gln) variant of GJA5 (Gap junction alpha-5 protein)
Q81Q (p.Gln81Gln) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q81Q (p.Gln81Gln) variant details
- p.Gln81Gln
- gnomAD 1-147758996-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 9.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available