Q49Q (p.Gln49Gln) variant of GJA5 (Gap junction alpha-5 protein)
Q49Q (p.Gln49Gln) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
Q49Q (p.Gln49Gln) variant details
- p.Gln49Gln
- rs1487739192
- gnomAD 1-147759092-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 9.86
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Literature evidence available